Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia-Reference-Cited by-同舟云学术

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

Published:2024-08-26 Issue:1 Volume:11 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Masuda Layla,Hasegawa Akihiro,Kamura Hiromi,Hasegawa Fuyuki,Yamamura Michihiro,Taniguchi Kosuke^ORCID,Ito Yuki^ORCID,Hata Kenichiro^ORCID,Samura Osamu^ORCID,Okamoto Aikou

Abstract

AbstractType 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.

Funder

JSPS KAKENHI

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41439-024-00290-z.pdf

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