Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia

Richard Kellermayer, Matthew Keller, Paulina Ratajczak, Elizabeth Richardson, Ferenc Harangi, Eszter Mérei, B. Melegh, G. Kosztolányi, Gabriele Richard

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Gap junctions are formed by a polygenic family of more than 20 different connexin proteins. They mediate intercellular communication via the direct exchange of ions, metabolites and secondary messengers, thus controlling and coordinating cellular activities. Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing loss and/or disorders of the skin and its appendages, often giving rise to overlapping phenotypes. In this study we present a patient with hidrotic ectodermal dysplasia, who had abortive features of oculo-dento-digital dysplasia, extensive hyperkeratosis of the skin. The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26). Our findings suggest that GJA1 mutations can produce variable clinical phenotypes on the background of sequence variants in other connexins.

Original languageEnglish
Pages (from-to)75-79
Number of pages5
JournalEuropean Journal of Dermatology
Volume15
Issue number2
Publication statusPublished - Mar 2005

Fingerprint

Ectodermal Dysplasia
Connexins
Connexin 43
Gap Junctions
Mutation
Hearing Disorders
Phenotype
Skin
Ion Exchange
Hearing Loss
Genes
Proteins

Keywords

  • Clouston syndrome
  • Connexin 26
  • Connexin 43
  • Gypsy
  • Palmoplantar keratoderma

ASJC Scopus subject areas

  • Dermatology

Cite this

Kellermayer, R., Keller, M., Ratajczak, P., Richardson, E., Harangi, F., Mérei, E., ... Richard, G. (2005). Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. European Journal of Dermatology, 15(2), 75-79.

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. / Kellermayer, Richard; Keller, Matthew; Ratajczak, Paulina; Richardson, Elizabeth; Harangi, Ferenc; Mérei, Eszter; Melegh, B.; Kosztolányi, G.; Richard, Gabriele.

In: European Journal of Dermatology, Vol. 15, No. 2, 03.2005, p. 75-79.

Research output: Contribution to journalArticle

Kellermayer, R, Keller, M, Ratajczak, P, Richardson, E, Harangi, F, Mérei, E, Melegh, B, Kosztolányi, G & Richard, G 2005, 'Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia', European Journal of Dermatology, vol. 15, no. 2, pp. 75-79.
Kellermayer R, Keller M, Ratajczak P, Richardson E, Harangi F, Mérei E et al. Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. European Journal of Dermatology. 2005 Mar;15(2):75-79.
Kellermayer, Richard ; Keller, Matthew ; Ratajczak, Paulina ; Richardson, Elizabeth ; Harangi, Ferenc ; Mérei, Eszter ; Melegh, B. ; Kosztolányi, G. ; Richard, Gabriele. / Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. In: European Journal of Dermatology. 2005 ; Vol. 15, No. 2. pp. 75-79.
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