Palmoplantar keratoderma and erythrokeratodermasGene: MT-TS1
PMID:9450881 (Sevior et al., 1998) report a mitochondrial A7445G mutation in two pedigrees (NZ and Japanese) with palmoplantar keratoderma and deafness. A New Zealand and a Scottish pedigree with maternally inherited sensorineural deafness were both previously shown to carry a heteroplasmic A7445G mutation in MT-TS1. PMID:9450881 (Sevior et al., 1998) showed that relatives in the New Zealand family had palmoplantar keratoderma in addition to deafness. Sevior et al., went on to review a Japenese pedigree of 'palmoplanatar keratoderma and hearing loss' and document the same A7445G mutation. Furthermore, they review a Turkish pedigree (reported originally in 1975 by Bititci/PMID:127819) where affected individuals are all maternally related, suggesting a mitochondrial mutation.
Created: 3 Apr 2017, 2:38 p.m.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
MT-TS1 was created by rfoulger
MT-TS1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other