Article
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.
Human molecular genetics - 15 Oct 2007
Gregory-Evans Cheryl Y, Moosajee Mariya, Hodges Matthew D, Mackay Donna S, Game Laurence, Vargesson Neil, Bloch-Zupan Agnès, Rüschendorf Franz, Santos-Pinto Lourdes, Wackens Georges, Gregory-Evans Kevin
Abstract excerpt
We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All affected patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating with a high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated with disease in one family (oculo-oto-dental syndrome). A genome-wide scan was...
Topics
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Coloboma
- Craniofacial Abnormalities
- DNA Mutational Analysis
- Embryo, Nonmammalian
- Eye
- Fas-Associated Death Domain Protein