患有先天性多发性关节挛缩症和翼状胬肉的胎儿中的错义BICD2变体。
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.
作者信息
Masuda Layla, Hasegawa Akihiro, Kamura Hiromi, Hasegawa Fuyuki, Yamamura Michihiro, Taniguchi Kosuke, Ito Yuki, Hata Kenichiro, Samura Osamu, Okamoto Aikou
机构信息
Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
出版信息
Hum Genome Var. 2024 Aug 26;11(1):32. doi: 10.1038/s41439-024-00290-z.
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.
以下肢为主的2型脊髓性肌萎缩症（SMALED2）由双尾D货物衔接蛋白2（BICD2）变异引起。然而，SMALED2的基因型与表型相关性尚未得到充分表征。我们在两名产前被诊断为严重先天性多发性关节挛缩症的胎儿中鉴定出了从头杂合BICD2错义变异。本报告为这种罕见疾病的遗传学提供了进一步的见解。
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