Balkan Journal of Medical Genetics

CLOUSTON SYNDROME: FIRST CASE IN RUSSIA
Marakhonov AV, Skoblov MYu, Galkina VA, Zinchenko RA
*Corresponding Author: Andrey V. Marakhonov, Scientifi c Associale Laboratory of Genetic Epidemiology, Federal State Budgetary Institution “Research Centre for Medical Genetics” under The Russian Academy of Medical Sciences, Moskvorechie St., 1, 115478 Moscow, Russian Federation; Tel./Fax: +7(499)612-80- 45; E-mail: marakhonov@generesearch.ru
page: 51

INTRODUCTION

Hidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis with alopecia and palmoplantar hyperkeratosis, frequently accompanied by normal perspiration and dentition. The one and only genetic cause of Clouston syndrome is thought to be a mutation in the GJB6 gene localized on chromosome 13q12 [1]. This gene encodes for a 30 kDa gap junction protein, subunit B6 (connexin 30, Cx30), forming gap junctions between adjacent cells which allow molecules and ions to pass between them. In some cases, mutations in the GJB6 gene are known to cause autosomal dominant (locus DFNA3) and autosomal recessive (locus DNFB1) non syndromic sensorineural hearing loss [2,3]. It has also been reported that a mutation in the GJB6 gene is the cause, in at least one case, of keratitisichthyosis- deafness (KID) syndrome [4]. Four mutations were found in Clouston syndrome patients: G11R, V37E, D50N and A88V [5]. These cases of hidrotic ectodermal dysplasia were described in British, French, Spanish, African, Malaysian and Chinese populations [6-8]. Although the cases of Clouston syndrome were reported in different populations, there are no documented cases of HED2 in Russia. Here we describe the fi rst report of Clouston syndrome in Russia and the molecular genetic analysis of this case.

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