Open AccessEnlarged Vestibular Aqueducts from Autosomal Recessive Parents
Author(s) -
Mun Sue Jean
Publication year - 2011
Publication title -
otolaryngology–head and neck surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.232
H-Index - 121
eISSN - 1097-6817
pISSN - 0194-5998
DOI - 10.1177/0194599811415823a249
Subject(s) - proband , genetics , assortative mating , compound heterozygosity , sanger sequencing , etiology , heterozygote advantage , allele , biology , mutation , medicine , pathology , gene , mating
Objective Enlargement of the vestibular aqueduct is a commonly detected inner ear abnormality and is inherited as an autosomal recessive trait caused by bi‐allelic SLC26A4 mutations. Vertical transmission of EVA has rarely been reported in the literature. We report a case where EVA is inherited as a vertical transmission. Method A bi‐directional sequencing of SLC26A4 was performed to have a molecular genetic diagnosis of the 3 affected members of this family whose radiologic phenotype was documented by temporal bone CT. Results The father and the mother as well as the proband were shown to have either EVA only or incomplete partition type II. The bi‐directional sequencing of SLC26A4 demonstrated homozygous mutations of p.H723R and c.IVS7‐2A>G from the father and the mother, respectively. The proband turned out to be a compound heterozygote of p.H723R and c.IVS7‐2A>G. Conclusion Given a wide variety of etiology for congenital deafness, it is interesting to find an assortative mating between EVA patients. We observed a vertical transmission of EVA and documented that SLC26A4 mutations segregating in the family with vertical transmission of EVA, which is usually inherited as a recessive manner.