Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
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.
Authors
- Akihiro Hasegawa (ORCID: https://orcid.org/0000-0003-0493-5308)
- Fuyuki Hasegawa
- Michihiro Yamamura
- Hiromi Kamura
- Osamu Samura (ORCID: https://orcid.org/0000-0002-7249-1537)
- Aikou Okamoto (ORCID: https://orcid.org/0000-0002-5079-0464)
- Kenichiro Hata (ORCID: https://orcid.org/0000-0002-7809-7637)
- Yuki Ito (ORCID: https://orcid.org/0000-0002-6882-7560)
- Kosuke Taniguchi (ORCID: https://orcid.org/0000-0003-1562-3764)
- Layla Masuda
Institutions
- Jikei University School of Medicine (JP)
- Gunma University (JP)
- National Center For Child Health and Development (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-08-26
- DOI
- https://doi.org/10.1038/s41439-024-00290-z
- Citations
- 1
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.44
Funders
- Japan Society for the Promotion of Science