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 excerpt

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...

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