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.
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.
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.
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: firstname.lastname@example.org
Received May 15, 2017
Accepted June 15, 2017