Relevance to Autism

TADA analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in Tan et al., 2026 identified LMNB1 as an ASD risk gene with a false discovery rare of <0.05; among the ASD-associated variants used in this analysis were two de novo loss-of-function variants and a de novo missense variant (all identified in SPARK probands).

Molecular Function

This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. Coffinier et al., 2011 found that forebrain-specific Lmnb1-knockout models had a small forebrain with disorganized layering of neurons and nuclear shape abnormalities; consistent with this finding, heterozygous variants in this gene were found to be associated with a form of autosomal dominant primary microcephaly (MCPH26; OMIM 619179), a disorder characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Mahajani et al., 2017 observed that Lamin B1 levels modulated the differentiation of murine neural stem cells (NSCs) into neurons and astroglial-like cells.

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