Article
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
American journal of human genetics - 10 Sept 2010
Gilissen Christian, Arts Heleen H, Hoischen Alexander, Spruijt Liesbeth, Mans Dorus A, Arts Peer, van Lier Bart, Steehouwer Marloes, van Reeuwijk Jeroen, Kant Sarina G, Roepman Ronald, Knoers Nine V A M, Veltman Joris A, Brunner Han G
Abstract excerpt
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of the disease in each of the two patients independently, showing that it is possible to find the causative gene by...
Topics
- Abnormalities, Multiple
- Apoptosis Regulatory Proteins
- Base Sequence
- Child
- DNA Mutational Analysis
- Ectodermal Dysplasia
- Exons
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- RNA Splice Sites