Molecular genetics & genomic medicine
A Novel Homozygous Variant Associated With Distinct Clinical Phenotypes of SDR9C7 Nonsyndromic Epidermal Differentiation Disorder in Two Affected Patients From a Consanguineous Saudi Family
By Almalki F, Khoj Z, Alharbi E and 1 others.
Abstract
Background
Nonsyndromic Epidermal Differentiation Disorders (nEDD) are a group of heterogeneous disorders characterized by scaling and erythema. Pathogenic variants in SDR9C7 cause SDR9C7-nEDD. We report two affected siblings from a consanguineous Saudi family presenting with distinct clinical phenotypes. The older affected brother exhibited generalized xerosis with both white and brown scaling, neck hyperpigmentation, and a velvety texture on the posterior neck. The younger sister showed diffuse xerosis with fine white scaling and marked palmoplantar hyperlinearity.
Methods
A family with two siblings suspected of a rare genetic disease was recruited. Given the phenotypic variability, whole-exome sequencing (WES) was carried out for the proband brother to identify the genetic cause. Sanger sequencing was used to confirm the finding in the proband and to examine segregation analysis for the family members. In silico prediction tools were also used to assess the variant's pathogenicity.