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Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child

Ismail, Samiraa; Fayez, Alaaeldinb; Otaify, Ghada A.a; Sayed, Inasc; El Ruby, Mona O.a; Aglan, Mona S.a; Temtamy, Samia A.a

Middle East Journal of Medical Genetics: July 2017 - Volume 6 - Issue 2 - p 82–87
doi: 10.1097/01.MXE.0000521018.95032.31
Original articles

Introduction Nager syndrome is a rare autosomal dominant genetic disorder with acrofacial dysostosis. The SF3B4 gene, which consists of six exons located at 1q21.2, is the only known gene that causes the syndrome.

Patients and methods This is a case report of an Egyptian female patient with clinical manifestations of Nager syndrome. Detailed clinical and orodental examination was performed in addition to needed imaging studies. Sanger sequencing was performed to identify variants in all six exons of the SF3B4 gene.

Results A novel heterozygous p.L96M variant in exon 3 of SF3B4 gene was identified in the affected case and was absent in her parents. In-silico analysis results showed that this nucleotide is highly conserved among species and is disease causing.

Conclusion We report on an Egyptian child with Nager acrofacial dysostosis syndrome with developmental retardation. Diagnosis was based mainly on clinical and radiological manifestations and confirmed by molecular studies that identified a novel mutation in SF3B4.

Departments of aClinical Genetics

bMolecular Genetics and Enzymology

cOrodental Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo 12311, Egypt

Correspondence to Samira Ismail, MD, PhD, Clinical Department of Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, El-Tahrir St, Dokki, 12311Cairo, Egypt E-mail: drsamira951@yahoo.com

Received May 15, 2017

Accepted June 15, 2017

© 2017 Middle East Journal of Medical Genetics
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