A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

• Published in: Journal of the European Academy of Dermatology and Venereology Vol. 19; no. 4; pp. 455 - 458
• Main Authors: Caria, H, Matos, T, Oliveira‐Soares, R, Santos, AR, Galhardo, I, Soares‐Almeida, L, Dias, O, Andrea, M, Correia, C, Fialho, G
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01-07-2005
• Subjects: A7445G mutation; Adult; Connexins; deafness; Diagnosis, Differential; DNA, Mitochondrial - genetics; European Continental Ancestry Group - genetics; Female; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Humans; Keratoderma, Palmoplantar - diagnosis; Keratoderma, Palmoplantar - genetics; Keratoderma, Palmoplantar - pathology; mtDNA; palmoplantar keratoderma; Pedigree; Point Mutation; Portugal; Siblings
• ISSN: 0926-9959; 1468-3083
• DOI: 10.1111/j.1468-3083.2005.01087.x

ABSTRACT
Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed. Molecular analysis revealed that all the affected members, previously screened for Cx26 mutations with negative results, presented the mtDNA A7445G point mutation in the homoplasmic form. To our knowledge, this is the fifth family in whom inherited NEPPK and hearing loss are related to this mitochondrial mutation.