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

Y�ksel, Zafer; Kutlay, �zden; Karaer, Kadri

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A Turkish family with Clouston syndrome caused by G11R mutation in GJB6 [Turkderm-Turk Arch Dermatol Venereol]

Turkderm-Turk Arch Dermatol Venereol. 2015; 49(2): 164-166 | DOI: 10.4274/turkderm.46343

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

Zafer Y�ksel¹, �zden Kutlay², Kadri Karaer³
¹Medical Genetics, Women And Children Hospital, Mersin, Turkey
²Department Of Medical Genetics, Eskisehir Osmangazi University, Eskisehir, Turkey
³Intergen Genetic Diagnosis Center, Ankara, Turkey

Clouston Syndrome (CS) is an ectodermal dyplasia 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 the present paper, a 30-year-old mother and her 3-year-old daughter diagnosed as CS. Seven more family members were also diagnosed as 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 had been reported in several different populations 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.

Keywords: Clouston syndrome, GJB6, G11R, Cx30, Turkish, heart rate

GJB6 geninde G11R mutasyonuna sahip Clouston sendromlu bir T�rk aile

Zafer Y�ksel¹, �zden Kutlay², Kadri Karaer³
¹Mersin Kad�n Do�um ve �ocuk Hastal�klar� Hastanesi, T�bbi Genetik Poliklini�i, Mersin, T�rkiye
²Eski�ehir Osmangazi �niversitesi T�p Fak�ltesi, T�bbi Genetik Anabilim Dal�, Eski�ehir, T�rkiye
³Intergen Genetik Hastal�klar Tan� Merkezi, Ankara, T�rkiye

Clouston t�rnak distrofisi ve sa� tutulumu ile giden otozomal dominant ge�i�li bir ektodermal displazidir (OMIM #129500). H�creler aras� ba�lant� g�revi yapan gap junction yap�s�nda yer alan konneksin ailesinin bir �yesi olan konneksin 30'u (Cx30) kodlayan GJB6 genindeki mutasyonlardan kaynaklanmaktad�r. Otuz ya��nda bir kad�n ve �� ya��ndaki k�z�nda Clouston sendromu tan�s� kondu. Aile bireyleri tarand��nda otozomal dominant kal�t�mla uyumlu olacak �ekilde 7 bireyin daha ayn� klini�e sahip oldu�u g�r�ld�. Hastal�k olu�turucu heterozigot c.31G>A (p.G11R) mutasyonu Sanger dizileme y�ntemi kullan�larak GJB6 geninin 5. ekzonunda saptand�. Daha �nce farkl� toplumlarda Clouston sendromlu hastalarda tan�mlanan bu mutasyon T�rk ailede ilk kez bildirilmektedir. Ek olarak indeks olguda g�zlenen kardiyak arrest ve sin�s bradikardisi gibi kardiyak ileti sorunlar�n�n Cx30 ile ili�kisi olabilece�i d��n�lm��t�r.

Anahtar Kelimeler: Clouston sendromu, GJB6, G11R, Cx30, T�rk, kalp h�z�

Zafer Y�ksel, �zden Kutlay, Kadri Karaer. A Turkish family with Clouston syndrome caused by G11R mutation in GJB6. Turkderm-Turk Arch Dermatol Venereol. 2015; 49(2): 164-166

Corresponding Author: Zafer Y�ksel, T�rkiye

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