Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

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...

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Main Authors: Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Format: Article
Language:English
Published: Nature Publishing Group 2024-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00290-z
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Summary: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.
ISSN:2054-345X

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