title: [Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)].
abstract: The combination of pre-lingual and sensorinerual deafness with skin hyperkeratinization is a relatively rare pathology. Only 11 families affected by this disorder were described in the literature during the last 30 years (from 1975 to 2002). To date, there are no more than 50 cases of this condition known in the world. Modern molecular methods revealed in all such patients a mutation in the GJB2 gene as the primary cause of the disease. We studied a 4 year-old girl with bilateral congenital grade IV sensorineural deafness. Her unusual appearance drew attention aas early as the primary examination; the patient had the deep-set eyes and dry skin over the entire body, she presented with hypotrichosis of the scalp, thin and light-blond hair. Analysis of the nucleotide sequence of the GJB2 gene revealed the substitution of guanine-148 by adenine that led to D50N amino acid substitution. This dominant mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome). A review of the literature concerning molecular diagnostics and clinical features of this syndrome is presented. The results of molecular-genetic investigations provided the data on pathogenesis of different variants of sensorineural deafness and the associated genotype-phenotype relationships that may be used as a basis for the further development of the methods for the prevention and treatment of KID-syndrome.
authors.forename: T G
authors.initials: TG
authors.lastname: Markova
authors.forename: N B
authors.initials: NB
authors.lastname: Brazhkina
authors.forename: E V
authors.initials: EV
authors.lastname: Bliznets
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
authors.forename: G A
authors.initials: GA
authors.lastname: Tavartkiladze
mesh_terms: D019943:Amino Acid Substitution; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D007634:Keratitis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26