Article
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
Clinical genetics - 1 Aug 2017
Badiner N, Taylor S P, Forlenza K, Lachman R S, Bamshad M, Nickerson D, Cohn D H, Krakow D
Abstract excerpt
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small...
Topics
- Cytoplasmic Dyneins
- Ellis-Van Creveld Syndrome
- Female
- Fetus
- Genetic Heterogeneity
- Genetic Predisposition to Disease
- Humans
- Infant, Newborn
- Mutation
- Phenotype
- Pregnancy