A novel BSCL2 variant in a patient with CGL2 demonstrates lipoatrophy and insulin resistance, suggesting the need for genetic analysis in consanguineous populations.
Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the BSCL2 gene. Here we report a novel variant (NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)) in an 18-year-old female with congenital generalized lipodystrophy type 2. The patient presented with severe lipoatrophy, muscular hypertrophy and insulin resistance. This frameshift variant introduces a premature stop codon, probably triggering nonsense-mediated decay. This finding expands the BSCL2 mutational spectrum and highlights the importance of genetic analysis in consanguineous populations.
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Bazmi et al. (2026) studied this question.
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