Article
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Cold Spring Harbor molecular case studies - 1 Dec 2022
Buchh Muqsit, Gillespie Patrick J, Treat Kayla, Abreu Marco A, Schwantes-An Tae-Hwi Linus, Helm Benjamin M, Fang Fang, Xuei Xiaoling, Mantcheva Lili, Suhrie Kristen R, Graham Brett H, Conboy Erin, Vetrini Francesco
Abstract excerpt
Biallelic pathogenic variants in DYNC2H1 are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we review the case of a patient who was admitted to the Neonata...
Topics
- Female
- Humans
- Infant, Newborn
- Pregnancy
- Cytoplasmic Dyneins
- Exome Sequencing
- Mutation
- Polydactyly
- Ribs
- RNA, Messenger
- Short Rib-Polydactyly Syndrome