A Turkish family with Clouston syndrome caused by G11R mutation in GJB6

Yuksel Z., Kutlay O., Karaer K.

TURKDERM-ARCHIVES OF THE TURKISH DERMATOLOGY AND VENEROLOGY, cilt.49, sa.2, ss.164-166, 2015 (ESCI, Scopus, TRDizin)

Özet

Clouston syndrome (CS) is an ectodermal dysplasia characterized by nail dystrophy and hair defects and inherited in an autosomal dominant trait (OMIM #129500). It is caused by the mutations in GJB6 gene which is encoding connexin 30 (Cx30), a member of connexin family and included in the structure of gap junctions serving in intercellular interactions. In this paper, we present a 30-year-old mother and her 3-yearold daughter diagnosed with CS. Seven more family members were also diagnosed as having CS compatible with autosomal dominant trait. The disease causing heterozygous mutation c.31G>A (p.G11R) was found by Sanger sequencing in exon 5 of GJB6. The latter mutation has been reported in several different populations, however, yet it is reported for the first time in a Turkish family. Additionally, it is suggested that the history of cardiac conduction problems, such as cardiac arrest and sinus bradycardia might be related with mutant Cx30.