Consanguinity in the Egyptian population
Consanguinity has been a long-standing social habit among Egyptians. Studies report that consanguinity rates among the Egyptians throughout the last 40 years ranges between 29 and 39% (Temtamy and Loutfy, 1970; Hafez et al., 1983; Abdel Salam et al., 1985; Temtamy et al., 1994, 1998; Khayat and Saxena, 2000; El-Nekhely et al., 2008). Differences are due to sample sizes and methodologies. By performing analysis of variance using the Statistical Package for Social Sciences, version 13.0 (SPSS Inc., Chicago, Illinois, USA), Aglan (2010) reported no statistically significant differences in the consanguinity rates reported by Temtamy and Loutfy (1970), Temtamy et al. (1998), and El-Nekhely et al. (2008), indicating no trend in the reduction of their rates.
According to Khayat and Saxena (2000), consanguinity rates were higher in rural areas (46.0%) compared with urban areas (27.3%) and in upper Egypt (46.5%) compared with lower Egypt (31%), with the number of first-cousin marriages always higher than remote consanguinity (22.2 and 16.7%, respectively) (Fig. 1).
Association of consanguinity with congenital disorders
Consanguineous marriages (up to second cousins) are known to increase the risk of congenital malformations and autosomal recessive (AR) disorders. According to Temtamy et al. (1991d) in a study of 916 children with various birth defects, a significant association of consanguinity with birth defects was found, suggesting that the majority of birth defects arise as a consequence of homozygosity for recessive genes. The frequencies of consanguineous marriages with birth defects among their studied sample from various governorates of Egypt showed a higher percentage in upper Egypt compared with lower Egypt, with 41.3% being first cousins and 12.6% being second-cousin marriages. A highly significant association with consanguinity was present in central nervous system disorders, limb and skeletal malformations, disorders of sexual differentiation, eye, ear, and oral anomalies, and genetic syndromes.
From our experience at the Human Genetics and Genome Research Division at the National Research Centre (NRC), we have reported the following:
Afifi et al. (2010) studied 731 cases with genetic disorders diagnosed at two governmental hospitals, two primary healthcare centers, and the neonatal intensive care units at these hospitals in addition to 2686 cases referred to the Human Genetics Clinic, NRC, during a 3-year period. The authors noted an overall consanguinity rate of 55.9%, with a positive family history of similarly affected family member in 27.7%. According to their genetic/diagnostic/referral classification and the parental consanguinity rate reported in each category, Aglan (2010) reported that the consanguinity rates in patients with congenital deafness, inborn errors of metabolism, congenital dermatologic disorders, neurologic disorders, genetic ophthalmologic disorders, hematologic disorders, genetic syndromes, mental retardation, growth disorders, endocrinology disorders, and skeletal disorders were significantly higher (P<0.001) than that of the general population using the most recent record of 33% derived from National Health Surveys and reported by El-Nekhely et al. (2008). Consanguinity rates in cardiovascular and renal disorders were higher than that of the general population but not statistically significant (45 and 43.7%, respectively). However, there were no differences in the consanguinity rates in patients with primary infertility and chromosomal disorders (30 and 29.5%, respectively) and that of the general population (Fig. 2).
From the experience of the authors of this article at the Limb Malformations and Skeletal Dysplasia Clinic, NRC, out of 1700 examined cases, 50.6% were the offspring of first-cousin parents, 8% were the offspring of second cousins, and 1.5% were the offspring of double first cousins. Consanguinity beyond second cousins was present in 5.3%. Limb malformations as a part of syndrome constituted 59.7% of diagnosed cases, followed by the skeletal dysplasia group at 24.3%. The consanguinity rates in both groups (73.1 and 73.3%, respectively) were significantly higher than that of the general population. However, consanguinity rates in the group of limb and skeletal malformations due to chromosomal aberrations and that of isolated limb malformations (36.4 and 33.3%, respectively) were not different from the consanguinity of the general population (Fig. 3). A strong positive correlation between the consanguinity rates and number of referrals was confirmed by a regression analysis (r=0.801, r2=0.642) (Fig. 4).
Among the referred cases, AR disorders represented 53% of diagnosed cases with a consanguinity rate of 89.9%, which is highly significant compared with the consanguinity of the general population. This is in contrast to autosomal dominant, X-linked, sporadic, and chromosomal disorders (Fig. 5).
Because of the high rate of consanguinity in the referred cases to the Limb Malformations and Skeletal Dysplasia Clinic, rare and new AR disorders were reported and new causative genes were identified (Meguid and Aglan, 2002; Ashour et al., 2003; Temtamy et al., 2003, 2004a, 2004b, 2006a, 2006b, 2006c, 2006d, 2007a, 2007b, 2007c, 2008, 2010; Zaki et al., 2004; Temtamy and Aglan, 2008; Aglan et al., 2009; Hanson et al., 2009; Valencia et al., 2009; Lapunzina et al., 2010; Li et al., 2010). The rare phenomenon of multiple genetic disorders in the same sibship or individual has been observed and reported in nine families with a parental consanguinity of 77.8% (Temtamy et al., 2004c).
By reviewing the available Egyptian literature reporting parental consanguinity rates in groups of Egyptian patients with various birth defects, Temtamy (2004) and Aglan (2010) reported a statistically significant difference between the consanguinity rates in these studies and that of the general population (Table 1).
Also, in Egyptian studies including groups of patients with different genetic disorders, Temtamy (2004) and Aglan (2010) found a highly statistically significant difference between the consanguinity rate in patients with Gaucher disease (Khalifa et al., 1999), mucopolysaccharidosis (El-Bassyouni et al., 1999), cystic fibrosis (Shawky et al., 2003), gangliosidosis type 2 (El-Harouni et al., 2002), phenylketonuria (Hashishe, 1992; Shawky et al., 2002a), metachromatic leukodystrophy (Meguid et al., 2003), mental retardation (Temtamy et al., 1991c, 1994), genetic deafness (Shazly et al., 1995; Ismail et al., 1996), spinal muscle atrophy (Essawi et al., 2007), disorders of sexual differentiation (Mazen et al., 2008), B-thalassemia (El-Kamah et al., 2003; Hussein et al., 2007), and Fanconi anemia (Temtamy et al., 2007d) and that of the general population.
Assessment of the relation of consanguinity and complex genetic disorders
According to Temtamy (2004) and Aglan (2010), studies of the Egyptian literature revealed a significant difference in the consanguinity rates in patients with congenital heart disease (El-Mazni and Temtamy, 1970; Bassili et al., 2000), cleft lip and palate (Temtamy and Loutfy, 1970), neural tube defect (Abul-Einen and Toppozada, 1966; Temtamy et al., 1991b), craniosynostosis (Shawky et al., 2002b), callosal dysgenesis (Ismail et al., 2003), childhood obesity (Mazen et al., 2002), and stunted growth (Zottarelli et al., 2007) compared with the consanguinity of the general population.
A low socioeconomic status, chronic tonsillitis, a positive family history of acute rheumatic fever and paternal consanguinity were significantly associated with the occurrence of rheumatic heart disease in a study of school children in Alexandria governorate (Abdel-Moula et al., 1998). Consanguinity rates were significantly elevated among Egyptian schizophrenia patients in the Nile Delta region (Mansour et al., 2010). The associations were similar to those observed with bipolar I disorder in an earlier study (Mansour et al., 2009).
There were no differences in the consanguinity rates in patients with Down syndrome (Meguid et al., 2001) and other chromosomal disorders (Temtamy, 2001) and the consanguinity rate in the general population. In a study carried out by Temtamy et al. (1991a), grandmaternal consanguinity was found to be a predisposing cause for the high frequency of Down syndrome due to nondisjunction in young mothers in inbred societies. The authors’ hypothesis was that homozygosity for autosomal genes may be one of the predisposing factors to nondisjunction in mothers, offspring of consanguineous parents, calling for larger studies in different societies. Mokhtar and Abdel-Fattah (2001a) using multiple logistic regression analysis showed the following factors to be independently associated with an increased risk of congenital heart diseases among Down syndrome patients: parental consanguinity, maternal parents’ consanguinity, mother’s antibiotic use in pregnancy, oral contraceptive use, and diabetes in the mother.
Association of consanguinity with the reproductive health
Mokhtar and Abdel-Fattah (2001b) strongly suggested that consanguinity plays a major role in the high rates of prenatal and infant mortality, as out of their studied sample of 730 couples with reproductive losses, the consanguinity frequency was 68.8%, with 56.2% first cousins. Prenatal loss and infant deaths were frequently encountered among consanguineous marriages (P<0.0001). Khayat and Saxena (2000) concluded that close consanguineous marriages had the highest infant and child mortality rates, even after controlling for selected nongenetic predictors of infant mortality.
There were no differences in the consanguinity rates in patients with primary infertility (Temtamy, 2001; Afifi et al., 2010) and the consanguinity rate in the general population.
Genetic counseling and screening on consanguinity
Eshra et al. (1989) studied the knowledge and attitudes toward premarital counseling at Menoufia governorate in Egypt. Their results showed a big lack of knowledge about the term even among educated respondents. The main source of information was mass media, followed by medical personnel, who should be more involved in this service. Most respondents, except unmarried males, had a favorable attitude toward both premarital counseling and examination of consanguineous marriage. This may be related to certain social changes in the village life, such as declining illiteracy, increased economic pressures, increase in the number of nuclear families, and a subsequent delay in beginning a family. It was unlikely that noncontraceptive users would resort to induced abortion instead of contraceptive methods. The authors recommended that educational programs should target unmarried males so that their attitude toward premarital counseling and examination can be altered, unmarried females in order to deter them from consanguineous marriage, and noncontraceptive users to make them choose safe contraceptive methods rather than induced abortion.
Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic at NRC for premarital genetic counseling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counseling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis, which showed abnormal fetuses in two mothers. Other couples had normal offspring. Abdel-Meguid et al. (2000) concluded that premarital genetic counseling is of significant use in the detection of genetic disorders, and is an essential step in changing the attitude toward premarital testing and in reducing consanguineous marriage.
According to Afifi et al. (2010), the genetic counseling category was the most common according to their classification. It constituted 17% of the studied cases. The authors classified this category into premarital/preconceptional counseling (38.2%), history of recurrent abortion, intrauterine fetal death, still birth and infant deaths (38%), and couples with previous children with undiagnosed genetic disorders (23.8%). The consanguinity rate in this category of genetic counseling was 74.3%.
The relative abundance of recessive disorders in our population is clearly associated with the practice of consanguinity. This fact should be brought to the attention of health and social authorities. A shift in public, political, and professional attitudes is needed to establish comprehensive services. In line with the above, priority measures in dealing with the genetic risks of consanguinity should include the initiation of national birth registries, establishing a genetic preventive strategy including neonatal mass screening, especially for prevalent disorders, implementation of different screening programs (premarital diagnosis, carrier detection, etc.) followed by genetic counseling, including new technologies in addition to the improvement of the existing genetic services, and empowering the human resources. These measures should be supported and strengthened by defining the ethical, legal, religious, and cultural factors in formulating genetic services, clarifying and expanding physicians’ knowledge of genetic disorders, providing genetic education, and allowing for public debate.
In addition, to address the problem properly, healthcare systems need to incorporate and utilize research on inbreeding as a priority. This will help combat the deleterious impact of consanguinity on health. Standardized methodology should be used for all research on consanguinity. Research should also provide standardized and evidence-based culturally appropriate guidelines to assist in counseling for consanguinity. Moreover, the role played by joint collaboration with international institutions and the support of international organizations is crucial and should be encouraged and expanded. Hamamy et al. (2011) highlighted the importance of evidence-based counseling recommendations for consanguineous marriages and of undertaking both genomic and social research in defining the various influences and outcomes of consanguinity. Technological advances for rapid high-throughput genome sequencing and the identification of copy number variants by comparative genomic hybridization offer an unprecedented opportunity to identify genotype–phenotype correlations focusing on autozygosity, the hallmark of consanguinity.
Conflicts of interest
There are no conflicts of interest.
Abdel-Meguid AN, Zaki MS, Hammad SA. Premarital genetic investigations: effect of genetic counselling. East Mediterr Health J. 2000;6:652–660
Abdel-Moula AM, Sherif AA, Sallam SA, Mandil AM, Kassem AS, Zaher SR. Prevalence of rheumatic heart disease among school children in Alexandria, Egypt: a prospective epidemiological study. J Egypt Public Health Assoc. 1998;73:233–254
Abdel Salam E, Abdel-Magid IA, Barakat W. Rate of consanguinity in Egyptian population. J Int Coll Pediatr. 1985;3:11
Abdel-Salam GMH, Afifi HH, Zaki MS, Aglan MS, Hegazy I, Torky A, et al. Congenital anomalies in Giza, Egypt: a cross-sectional study. Med J Cairo Univ. 2009;77:43–49
Abul-Einen M, Toppozada HK. Aspects of births in the Shatby hospital, Alexandria. Br J Prev Soc Med. 1966;20:176–180
Afifi HH, El-Ruby MO, El-Bassyouni HT, Ismail SI, Aglan MS, El-Harouni AA, et al. Most encountered groups of genetic disorders
in Giza governorate, Egypt: classification and relevance. Bratisl Lek Listy. 2010;111:62–69
Aglan MS 2010 Consanguinity and Genetic disorders
: Egyptian Experience. The International Workshop on Consanguinity, Geneva, Switzerland, May 2–7
Aglan MS, Temtamy SA, Fateen E, Ashour AM, ElDeeb K, Hosny GA. Dyggve–Melchior–Clausen syndrome: clinical, genetic and radiological study of 15 Egyptian patients from 9 unrelated families. J Child Orthop. 2009;3:451–458
Ashour AM, Temtamy SA, El-Darouti M. A probable new syndrome of lipoid proteinosis, congenital cataract and characteristic facies. Egypt J Med Hum Genet. 2003;4:27–34
Bassili A, Mokhtar SA, Dabous NI, Zaher SR, Mokhtar MM, Zaki A. Risk factors for congenital heart diseases in Alexandria, Egypt. Eur J Epidemiol. 2000;16:805–814
Dardir AAM 2000 Clinical, Genetic and Environmental Studies in Birth Defects. Ph.D. thesis in Childhood Studies. Ain-Shams University, Cairo, Egypt
El-Bassyouni HT, Fateen EM, Meguid N, Salwa MY. A three year experience of screening Egyptian patients for inborn errors of metabolism. Egypt J Paed. 1999;16:17–24
El-Harouni AA, Zaki MS, Fateen EM, Meguid NA. GM2 Gangliosidosis: clinical, genetic and biochemical studies among Egyptian patients. Egyp J Neurol Psych Neurosurg. 2002;39:87–97
El-Kamah Gh, El-Beshlawy A, Sobh HA, Hussein IR. Phenotypic scoring in thalassemia intermedia and the impact of underlying molecular defects. Med J Cairo Univ. 2003;4(Suppl II):323–327
El-Mazni A, Temtamy SA. Some genetic aspects of congenital heart disease in Egyptian children. Gaz Egypt Pediat Assn. 1970;XVII:85–99
El-Nekhely I, Namaste S, Shriver EK 2008 Analysis of country situation survey: National plan of action. The 2nd
Conference of the Middle East and North Africa Newborn Screening Initiative. Cairo, Egypt, 12–14 April
Eshra DK, Dorgham LS, el-Sherbini AF. Knowledge and attitudes towards premarital counselling and examination. J Egypt Public Health Assoc. 1989;64:1–15
Essawi ML, Effat LK, Shanab GM, Al-Ettribi GM, El-Haronui AA, Karim AM. Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy. Bratisl Lek Listy. 2007;108:133–137
Hafez M, El-Tahan H, Awadalla M, El-Khayat H, Abdel-Gafar A, Ghoneim M. Consanguineous matings in the Egyptian population. J Med Genet. 1983;20:58–60
Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy SA, Romeo G, Ten Kate LP, et al. Consanguineous marriages, perils and pearls: Geneva International Consanguinity Workshop Consensus Report. Geneti Med. 2011;13:841–847
Hanson D, Murray PG, Sud A, Temtamy SA, Aglan MS, Superti-Furga A, et al. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet. 2009;84:801–806
Hashishe MM. Genetic study of phenylketonuria. J Egypt Public Health Assoc. 1992;67:443–463
Hussein G, Fawzy M, Serafi TE, Ismail EF, Metwally DE, Saber MA, et al. Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control. Hemoglobin. 2007;31:49–62
Ismail S, Zaki MS, El-Harouni AA. Callosal dysgenesis: clinical and genetic studies in 55 Egyptian patients. Egypt J Neurol Psych Neurosurg. 2003;40:1–10
Ismail SR, Hashine MM, Mourad MI, Abdel Kader M. Inheritance of nonsyndromal genetic deafness. J Egypt Public Health Assoc. 1996;71:403–438
Khalifa AS, Fateen E, Tantawy AAG, Monir E, Cooper A. Phenotype–genotype expression of Gaucher disease in Egyptian infants and children. Egypt J Pediat. 1999;16:631–653
Khayat RG, Saxena PC 2000 Consanguinity and its effect on infant and childhood mortality in Egypt, iussp2005.princeton.edu/download.aspx
[Accessed 5 May 2010]
Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010;87:110–114
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, et al. LRP4 receptor mutations alter Wnt/β-catenin signalling causing limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 2010;86:696–705
Mansour H, Klei L, Wood J, Talkowski M, Chowdari K, Fathi W, et al. Consanguinity associated with increased risk for bipolar I disorder in Egypt. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:879–885
Mansour H, Fathi W, Klei L, Wood J, Chowdari K, Watson A, et al. Consanguinity and increased risk for schizophrenia in Egypt. Schizophr Res. 2010;120:108–112
Mazen I, Hosny LA, Aziz SS, Hammad SA, Shihab MIK, El-Salam MA, et al. Genetic study of obesity in children. Egypt J Med Hum Genet. 2002;3:27–41
Mazen I, Hiort O, Bassiouny R, El-Gammal M. Differential diagnosis of disorders of sex development in Egypt. Horm Res. 2008;70:118–123
Meguid NA, Aglan MS. Clinical and anthropometric study in Egyptian children with Robinow Syndrome. Gaz Egypt Paed. 2002;50:399–413
Meguid NA, Awadalla MA, Zaki ME, Ali GS, Temtamy SA, Dardir AM. Clinical, genetic and environmental studies in birth defects. P. 0334, 10th
International Congress of Human Genetics. Eur J Hum Genet. 2001;9:165
Meguid NA, Dardir AA, Aglan MS, Fateen EM, Rashad MM. Metachromatic Leukodystrophy: Biochemical and neurophysiologic studies. Egypt J Neurol Psychiatr Neurosurg. 2003;40:139–146
Mokhtar MM, Abdel-Fattah M. Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995–2000): trends and risk factors. East Mediterr Health J. 2001a;7:441–451
Mokhtar MM, Abdel-Fattah MM. Consanguinity and advanced maternal age as risk factors for reproductive losses in Alexandria, Egypt. Eur J Epidemiol. 2001b;17:559–565
Shawky RM, El-Aleem KA, Rifaat MM, el-Nagar RL, Marzouk GM. Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene. East Mediterr Health J. 2002a;8:49–54
Shawky RM, Abdel Fattah SM, Abdelaziz EA, El-Sayed NS. Genetic study of Egyptian children with craniosynostosis. Egypt J Med Hum Genet. 2002b;3:25–44
Shawky RM, Abd El Khalek KA, Abd-El Fattah SM, Moselhi SE, Rifaat MM, Kamal TM, Aly MR, EI-Garf WT. Biochemical and molecular study of Cystic Fibrosis among high risk group patients with chronic lung disease. Egypt J Med Hum Genet. 2003;4:97–111
Shazly MK, Kamel NM, Hassanein MH, Salama OE, Nawar NM. Risk factors related to deaf-mutism among pupils attending the Alexandria governmental deaf-mute schools. J Egypt Public Health Assoc. 1995;70:381–395
Temtamy SA Effects of consanguinity on birth defects in Egyptians: Project funded by National Research Centre. 2001 Cairo, Egypt:1998–2001
Temtamy SA 2004 Consanguinity and Genetic Diseases in Egypt. “Consanguinity and Mediterranean Community Genetics Workshop”. Alexandria, Cairo, 3–6 October
Temtamy SA, Aglan MS. Brachydactyly. Review article. Orphanet J Rare Dis. 2008;3:15
Temtamy SA, Loutfy A. Some genetic and surgical aspects of cleft lip-cleft palate problem in Egypt. Cleft Palate J. 1970;7:578
Temtamy SA, Hussein FH, El-Salam MA, Meguid NA. Grandmaternal consanguinity: a possible predisposing factor for 21 trisomy Down syndrome in young mothers. J Egypt Public Health Assoc. 1991a;LXVI(Suppl):203–214
Temtamy SA, Hussein IMR, Ismail SR, Hussein FH, Abd-Allah Z, Zaki ME. Some genetic Aspects of Neural tube defects. J Publ Health Assoc. 1991b;LXVI(Suppl):97–126
Temtamy SA, Salam AM, Hussein FH, Meguid NA, El-Gindy E. Clinical, biochemical and cytogenetic studies of mental retardation in Egyptian children. J Public Health Assoc. 1991c;LXVI(Suppl):189–199
Temtamy SA, Sharaf NA, Ezzat WM, Lebshtein AK, Salam MA, Hussein FH. Consanguinity and birth defects in Egyptians. A cross-cultural perspective. J Egypt Public Health Assoc. 1991d;LXVI(Suppl):231–251
Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH. An epidemiological/genetic study of mental subnormality in Assiut governorate, Egypt. Clin Genet. 1994;46:347–351
Temtamy SA, Meguid N, Mazen I, Ismail SR, Kassem NS, Bassiouni R. A genetic epidemiological study of malformations at birth in Egypt. East Mediterr Health J. 1998;4:252–259
Temtamy SA, Aglan MS, Nemat A, Eid M. Expanding the phenotypic spectrum of the Baller-Gerold Syndrome. Genet Couns. 2003;14:299–312
Temtamy SA, Aglan MS, Ashour AM, El-Badry T, Helmy NA, Hussein HA. Genetic studies of congenital contractures. Egypt J Med Hum Genet. 2004a;5:1–58
Temtamy SA, El Kamah Gh, Ismail S, Mazen I, Darouti M. Report of four Egytian cases representing two new rare types of Ehlers-Danlos syndrome. J Arab Child. 2004b;15:91–111
Temtamy SA, Ismail S, Gh El-Kamah, El-Bassyouni HT, Kotouri AIS, Ramzy M, Zaki ME. The phenomenon of multiple genetic disorders
in the same individual or sibship. Relevance to consanguinity. Med J Cairo Univ. 2004c;27(Suppl II):157–173
Temtamy SA, Abdel-Hady SH, Salem FA, El-Ruby MO, Aglan MS, Tomarek RH, Al-Awady H. Genetic studies of limb reduction defects. Egypt J Med Hum Genet. 2006a;7:155–192
Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. 3-M syndrome: a report of three Egyptian cases with review of the literature. Clin Dysmorphol. 2006b;15:55–64
Temtamy SA, Ismail S, Helmy NI. Roberts syndrome: a study of 4 new Egyptian patients with comparison of clinical and cytogenetic studies. Genet Couns. 2006c;17:1–13
Temtamy SA, Minnikk MM, Abdel-Salam GMH, Hassan NA, Ala-Kokko L, Afifi HH. Oto-Spondylo-Megaepiphyseal Dysplasia (OSMED): clinical and radiological findings in Egyptian sibs homozygous for premature stop codon mutation in the COL11A2 gene. Am J Med Genet. 2006d;140:1189–1195
Temtamy S, Aglan MS, Ashour AM, Zaki MS. Adams-Oliver Syndrome: further evidence of an autosomal recessive variant. Clin Dysmorphol. 2007a;16:141–149
Temtamy SA, Aglan MS, Aboul-Ezz EHA, Ashour AM, El-Badry TH 2007b ): A study of 319 Egyptian cases with limb and skeletal Malformations. The 5th
Meeting of the African Society of Human Genetics in conjunction with the 1st
Meeting of the National Society of Human Genetics, Cairo, Egypt, November
Temtamy SA, Aglan MS, El-Gammal MA, Hosny LA, Ashour AM, El-Badry TH, et al. Genetic Heterogeneity in Spondylo-epi-metaphyseal Dysplasias: a Clinical and Radiological Study. Egypt J Med Hum Genet. 2007c;8:147–171
Temtamy SA, Ismail SR, El-Beshlawy AM, Mohamed AM, Kotb SM, Eid MM. Fanconi anemia: cytogenetic and clinical studies on a group of Fanconi anemia patients. Egypt Haematol. 2007d;10:61–67
Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, et al. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum Mutat. 2008;29:931–938
Temtamy SA, Aglan MS, Meguid NATeebi AS. Genetic disorders
in the Egyptians. Genetic disorders
among Arab population. 2010 Springer
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, et al. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyers variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat. 2009;30:1667–1675
Zaki MS, El-Sabbagh MH, Aglan MS. Familial congenital brachial palsy: a report of two affected Egyptian families. Genet Couns. 2004;15:27–36
Zottarelli LK, Sunil TS, Rajaram S. Influence of parental and socioeconomic factors on stunting in children under 5 years in Egypt. East Mediterr Health J. 2007;13:1330–1342