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Aglan, Monaa; Abdel-Hamid, Mohamedb; Ismail, Somaiab; Temtamy, Samia A.a
Temtamy preaxial brachydactyly syndrome (TPBS; OMIM: 605282) is a rare autosomal-recessive skeletal disorder. Loss-of-function mutations in the human CHSY1 gene were found to cause TPBS. The syndrome has been reported and homozygous or compound heterozygous mutations have been confirmed in 16 patients worldwide from consanguineous families. Seven reported patients were Egyptians. Here we report on an additional Egyptian patient with TPBS, an offspring of consanguineous parents. Phenotype analysis and molecular studies were performed on the family. Clinical examination of the studied patient confirmed the facial dysmorphic features and typical digital anomalies. Molecular studies revealed a novel homozygous nonsense mutation in exon 2 of the CHSY1 gene, c.613G>T (p.E205X). The mutation was found in the heterozygous state in both parents and was not found in 200 normal chromosomes of Egyptian origin by PCR and restriction fragment length polymorphism (PCR-RFLP) analysis. This case report adds a new Egyptian patient with TPBS with a novel mutation in the CHSY1 gene. The total number of reported cases has now reached 17, including eight Egyptian patients. The study confirms our previous conclusion that the syndrome is an easily recognizable dysmorphic syndrome and that the rarity of worldwide reports could be due to underdiagnosis.
© 2014 Middle East Journal of Medical Genetics
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CHSY1, Egypt, loss of function mutations, parental consanguinity, skeletal disorder, Temtamy preaxial brachydactyly syndrome
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