Article
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.
Human mutation - 1 Oct 2013
Brown Kerry K, Viana Lucas M, Helwig Cecilia C, Artunduaga Maria A, Quintanilla-Dieck Lourdes, Jarrin Patricia, Osorno Gabriel, McDonough Barbara, DePalma Steven R, Eavey Roland D, Seidman Jonathan G, Seidman Christine E
Abstract excerpt
Microtia is a rare, congenital malformation of the external ear that in some cases has a genetic etiology. We ascertained a three-generation family with bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing of affected family members detected only seven shared, rare, heterozygous, nonsynonymous variants, including one protein truncating variant, a HOXA2 nonsense change...
Topics
- Congenital Abnormalities
- Congenital Microtia
- Ear
- Ear, External
- Exome
- Female
- Genes, Dominant
- Haploinsufficiency
- Hearing Loss
- High-Throughput Nucleotide Sequencing