Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.
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ABSTRACT:
SUBMITTER: Masuda L
PROVIDER: S-EPMC11345410 | biostudies-literature | 2024 Aug
REPOSITORIES: biostudies-literature
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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.
Masuda Layla L Hasegawa Akihiro A Kamura Hiromi H Hasegawa Fuyuki F Yamamura Michihiro M Taniguchi Kosuke K Ito Yuki Y Hata Kenichiro K Samura Osamu O Okamoto Aikou A
Human genome variation 20240826 1
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. ...[more]
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