Novel Homozygous SCARF2 Nonsense Variant in Two Siblings with Van den Ende-Gupta Syndrome

Abdelrazek, I. (2022). Novel Homozygous SCARF2 Nonsense Variant in Two Siblings with Van den Ende-Gupta Syndrome (Version 1) [DataSet]. GestaltMatcher Database.

Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive disorder characterized by severe contractural arachnodactyly from birth and specific facial gestalt, including a triangular face, malar hypoplasia, a narrow nose, everted lips, and blepharophimosis. It is caused by biallelic pathogenic variants in SCARF2. We report two sisters, aged 17 years and 4 months, with congenital joint contractures, arachnodactyly, and a characteristic facial gestalt, including blepharophimosis, ptosis, a narrow nose, and midface hypoplasia. Whole-exome sequencing identified a novel homozygous nonsense variant in SCARF2 (NM_153334.4:c.621G>A; p.(W207*)) in both sisters, with their parents confirmed as heterozygous carriers. These findings contribute to the phenotypic and genotypic spectrum of VDEGS, supporting facial gestalt recognition and variant interpretation for this rare syndrome.