Article
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
Clinical genetics - 1 Dec 2015
McInerney-Leo A M, Harris J E, Leo P J, Marshall M S, Gardiner B, Kinning E, Leong H Y, McKenzie F, Ong W P, Vodopiutz J, Wicking C, Brown M A, Zankl A, Duncan E L
Abstract excerpt
Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes...
Topics
- Abnormalities, Multiple
- Adaptor Proteins, Signal Transducing
- Adult
- Carrier Proteins
- Cell Cycle Proteins
- Child
- Child, Preschool
- Cytoplasmic Dyneins
- Cytoskeletal Proteins
- Exome