Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

ABSTRACT: Congenital generalized lipodystrophy (CGL) is a clinically and genetically heterogeneous condition with autosomal recessive inheritance. CGL is classified into four subtypes on the basis of causative genes. This study reported on a 2‑month‑old male infant diagnosed with CGL with generalized lipoatrophy and skin hyperpigmentation. Whole exome sequencing (WES) identified a heterozygous small insertion (c.545_546insCCG) in Berardinelli‑Seip congenital lipodystrophy 2 (BSCL2) that was inherited from the infant's mother. Copy number variation analysis using exome data suggested a heterozygous deletion involving exon 3 that was inherited from the infant's father. This finding was confirmed by multiplex ligation‑dependent probe amplification test. Gap‑PCR revealed breakpoints and confirmed a 1274

SUBMITTER: Xie B 

PROVIDER: S-EPMC7185175 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature