research A Novel Nonsense Mutation in the STS Gene in a Pakistani Family with X-Linked Recessive Ichthyosis: Including a Very Rare Case of Two Homozygous Female Patients
This study investigated a large Pakistani family with 16 individuals affected by X-linked ichthyosis (XLI), including a rare occurrence of two homozygous female patients. The research identified a novel hemizygous nonsense mutation (c.287G > A; p.W96*) in exon 4 of the STS gene in all affected males, while the two affected females were homozygous for this mutation. Clinical manifestations included generalized dryness and scaling of the skin, with no extracutaneous features observed. The findings contributed to understanding the genetic basis of XLI, expanded the known mutational spectrum of the STS gene, and aided in the diagnosis of female carriers, providing valuable information for genetic counseling.
