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

doi:10.1038/s41439-024-00290-z

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

Hum Genome Var. 2024 Aug 26;11(1):32. doi: 10.1038/s41439-024-00290-z.

Authors

Affiliations

¹ Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan. laylam1118@gmail.com.
² Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁴ Center for Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan.
⁵ Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Gunma, Japan.

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.