Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

ABSTRACT: Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease.

SUBMITTER: Masuda L 

PROVIDER: S-EPMC11345410 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature