A Missense Pathogenic Variant in a Conserved Region of Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Introduction: In a consanguineous family, seven siblings born in three sibships showed a syndromic disorder characterized by obesity, seizures, and language impairment phenotypes, which appeared at early age or developed during early childhood.

Methods: By whole-exome sequencing and subsequent Sanger sequencing, a novel homozygous missense variant (c.3371 T>A [p.