Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

ABSTRACT: Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of intellectual disability (ID) and congenital alopecia, as well. Eight families with 13 cases have been previously reported. Herein, we provide a report on an Egyptian family with two affected siblings and one affected fetus who was diagnosed prenatally. Whole-exome sequencing (WES) revealed a novel pathogenic missense variant (c.1609G > T; p.Val537Leu) in the lanosterol synthase gene (LSS) related to the examined patients. The detected variant was confirmed by Sanger sequencing. Segregation analyses confirmed that the parents were heterozygous. Our

SUBMITTER: Elaraby NM 

PROVIDER: S-EPMC9726667 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature