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BSCL2 has been implicated in neonatal diabetes mellitus (NDM) through next-generation sequencing (NGS) screening in an Italian cohort. In a study of 104 early-onset cases, a single proband harboring a recessive BSCL2 variant presented with NDM and congenital severe insulin resistance, later managed with metreleptin ([PMID:38408297]). No additional affected relatives were described, and the limited number of cases precludes segregation analysis. A subsequent overview of newly identified NDM genes reaffirmed BSCL2 among rare causes, without quantifying further cases ([PMID:39344692]).
Autosomal recessive inheritance is suggested by the single reported case. Genetic evidence remains limited, with one variant reported and no family segregation data or recurrence. No functional studies have directly assessed BSCL2’s role in pancreatic β-cell development or insulin secretion in the context of NDM. Thus, current evidence supports a limited association between BSCL2 and neonatal diabetes mellitus.
Key Take-home: BSCL2 variants are rare causes of neonatal diabetes; further case ascertainment and functional studies in β-cell models are needed to clarify clinical utility.
Gene–Disease AssociationLimitedSingle proband with recessive BSCL2 variant in NDM ([PMID:38408297]) Genetic EvidenceLimitedOne autosomal recessive BSCL2 variant reported; no segregation data Functional EvidenceLimitedNo functional studies addressing BSCL2 in β-cell function or NDM context |