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August 26, 2024Human Genome VariationOpen Access

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

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

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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.

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Cite This Study

Masuda et al. (2024) studied this question.

synapsesocial.com/papers/68e5aef2b6db64358754817e https://doi.org/10.1038/s41439-024-00290-z

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity2025
2Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo <i>BICD2</i> Variant: Expanding the Prenatal Phenotype of SMALED2B2025
3Identification and Functional Characterization of Bicaudal-D2 As A Candidate Disease Gene in Autosomal Recessive Consanguineous Family with Dilated Cardiomyopathypreclinical · 2022
4A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2Original Research · 2026
5Variant Update on <scp> <i>ASCC1</i> </scp> : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2case_series · 2025 · 2 citations

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