What question did this study set out to answer?

To report a novel BSCL2 variant and its associated clinical features in a patient with congenital generalized lipodystrophy type 2.

May 7, 2026Open Access

Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review

Key Points

To report a novel BSCL2 variant and its associated clinical features in a patient with congenital generalized lipodystrophy type 2.
Clinical and genetic analysis of an 18-year-old female patient
In silico analysis of the BSCL2 variant
Comparative review of relevant literature
Identified a novel frameshift variant NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)
Patient exhibited severe lipoatrophy, muscular hypertrophy, and insulin resistance
Findings expand the BSCL2 mutational spectrum and highlight genetic analysis importance in consanguineous populations

Abstract

Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the BSCL2 gene. Here we report a novel variant (NM₀01122955. 4: c. 828₈35dup 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.

Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review

Key Points

Abstract

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