Ontology highlight
ABSTRACT:
SUBMITTER: Brown KK
PROVIDER: S-EPMC3883620 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Brown Kerry K KK Viana Lucas M LM Helwig Cecilia C CC Artunduaga Maria A MA Quintanilla-Dieck Lourdes L Jarrin Patricia P Osorno Gabriel G McDonough Barbara B DePalma Steven R SR Eavey Roland D RD Seidman Jonathan G JG Seidman Christine E CE
Human mutation 20130711 10
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 (c.703C>T, p.Q235*). The HOXA2 variant was segregated with microtia and hearing loss ...[more]