A novel splice site deletion in the OFD1 gene is responsible for oral–facial–digital syndrome type1 in an Emirati child

摘要: Oral – facial digital syndrome type 1 (OFD1) is a male-lethal X-linked dominant disorder characterized by dysmorphic face, associated with oral cavity and anomalies. Polycystic kidney disease another typical feature of this syndrome. Heterozygous mutations in the OFD1 gene are responsible for condition. This encodes centrosomal basal body cilia protein that plays an important role early development brain, limbs kidneys. In study we clinically evaluated affected Emirati female child exhibiting features Screening was carried out using Sanger DNA sequencing method. Moreover, bioinformatics tools were used to predict pathogenicity identified mutation. As result, heterozygous single-nucleotide deletion donor splice site exon 20 (c.2757+1delG). Both parents homozygous wild-type alleles. The might be de novo mutation nature, but cannot exclude possibility mosaicism mother. Prediction analyses showed abolishes authentic leading generation cryptic site. Subsequently, will result frameshift premature termination codon (p.Lys920ArgfsX2). report, describe clinical molecular studies To our knowledge first report aspect from UAE.