PMID: 9450881Feb 5, 1998Paper

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness

American Journal of Medical Genetics
K B SeviorM Maw

Abstract

A New Zealand and a Scottish pedigree with maternally inherited sensorineural deafness were both previously shown to carry a heteroplasmic A7445G mutation in the mitochondrial genome. More detailed clinical examination of the New Zealand family showed that the hearing loss was progressive, with the severity of the overall loss and the frequencies most affected differing markedly between individuals of similar age, and showed that many relatives also had palmoplantar keratoderma. Review of the literature demonstrated three other large families with presumed autosomal dominant inheritance of palmoplantar keratoderma and hearing loss. In a United Kingdom pedigree the syndrome was transmitted by female and male parents, an inheritance pattern which made mitochondrial inheritance unlikely; however, in a Turkish and a Japanese pedigree the affected individuals were all maternally related. Subsequent analysis of the Japanese pedigree documented the same A7445G mitochondrial mutation as was previously found in the New Zealand and Scottish pedigrees. Other mitochondrial sequence variants previously reported in the New Zealand or Scottish pedigrees were absent from the Japanese pedigree which suggests that the A7445G mutation arose indep...Continue Reading

Citations

Jan 14, 2000·Journal of Medical Genetics·S UsamiS Komune
Dec 20, 2003·Journal of Medical Genetics·A Martinez-MirA M Christiano
Jan 22, 2003·The British Journal of Dermatology·A D Irvine, W H I McLean
Jul 1, 2005·Journal of the European Academy of Dermatology and Venereology : JEADV·H CariaG Fialho
Oct 16, 2004·The Journal of Investigative Dermatology·Gabriele RichardAlfons Krol
Nov 9, 2001·Annual Review of Genetics·C PetitJ P Hardelin

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.