Oral-Facial-Digital Syndrome Type ۱ in a Patient

Orofacial-digital syndrome ۱ (OFDS۱) can cause heterogeneous development with abnormalities of the oral cavity, facial and digital features, central nervous system (CNS) abnormalities, and developmental disorders. Mutations in the OFD۱ gene cause this syndrome, which is transmitted in an X-linked dominant pattern and can lead to stillbirth and miscarriage in males. The possibility of fetal survival and the birth of male infants with this mutation is very rare. Here, we report a missense variant mutation in the OFD۱ gene using whole-exome sequencing. This hemizygous variant is likely pathogenic and causes syndromic symptoms associated with OFD۱, such as malformations. We present an Iranian child in whom the clinical features of the OFD۱ missense variant (exon۱۵:c.۱۴۵۰C>G (p.Gln۴۸۴Glu)) were observed. In addition, the change in Gibbs free energy (ΔG) was calculated to assess the effect of the missense variant on OFD۱ protein stability. As a result, identifying OFD۱ gene mutations can help dermatologists distinguish relevant skin lesions from other diseases and facilitate treatment.

کلیدواژه ها:

OFD۱ gene ، Oral-facial-digital syndrome type I (OFDS۱) ، whole-exome sequencing (WES)