Balkan Journal of Medical Genetics

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME WITH HETEROZYGOUS P.D50N IN THE GJB2 GENE IN TWO SERBIAN ADULT PATIENTS
Kalezić T.1,*, Vuković I.2, Stojković M.1, Stanojlović S.1, Karanović J.3, Brajušković G.3, Savić-Pavićević D.3
*Corresponding Author: Tanja Kalezić, School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of Serbia, Address: Pasterova Street No 2 , Tel. +381638148843, e-mail address: tanjakalezic@gmail.com
page: 6

INTRODUCTION

Keratitis-ichthyosis-deafness (KIDAD; MIM #148210) syndrome is a rare congenital ectodermal dysplastic syndrome. Prevalence is unknown, with approximately 100 reported cases to date.1 KID syndrome presents with the classic phenotypic triad consisting of keratitis, ichthyosiform erythroderma, and sensorineural hearing loss. There is also variability in the clinical presentation among patients. The disease is relentless, with all the therapeutic modalities used so far having been disappointing.2 Inheritance of KID syndrome is usually sporadic or autosomal dominant.3 In most reported cases, KID syndrome is caused by missense mutations in the GJB2 gene encoding connexin 26 (Cx26).3 The GJB2 gene is expressed in a variety of tissues, including several ectodermal epithelia affected in KID syndrome: the corneal epithelium, epidermis of skin, cochlea, and hair follicles. Cx26 is one of 21 connexins coded by the human genome that represents membrane proteins. These consist of four transmembrane domains, linked by one cytoplasmic and two extracellular loops, with cytoplasmic N- and C-terminus.4 Connexins form homo- or heterohexamers, referred to as hemichannels or connexons, in the endoplasmic reticulum-Golgi pathway. Subsequently, they are arranged in two functionally different structures. Docking of two hemichannels from neighboring cells results in the formation of a gap junction enabling intercellular communication. 5,6 Undocked, or functional, hemichannels serve intracellular–extracellular exchange and signaling across the plasma membrane.5,6 The GJB2 gene, harboring missense mutations, encodes for functional Cx26, but with aberrant properties, leading to dysregulated hemichannels that cause syndromic character and heterogeneous phenotypic manifestations, seen in KID syndrome.7 Here we report, for the first time, on two adult Serbian patients with KID syndrome, carrying heterozygous p.D50N missense mutation in the GJB2 gene. The study aims presenting their phenotype-genotype correlation.

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