engleski

F142L mutation in GJB2 gene in a patient with uncommon skin disorders and deafness

Dominant mutations in the human GJB2 gene which encodes conexin 26 (CxC)can cause non syndromic hearring loss, but can also manifest with various skin disorders including palmoplantar keratosis (PPK), VohWinkel syndrome, Bart-Bumphrey syndrome (BPS)and keratitis-ichtiosis-deafness (KID) syndrome. We present a girl with congenital hearing impairment, plantar keratosis, extensive skin changes in form of folicular inflammatory papules, and erythematous often scaly patches affecting whole body, including scalp and face. In addition , she had extensive mucosal involvment including oral and esophageal mucosa and perigenital region. Her hair was sparse and thin, she had submucosal cleft palate and hypodontia. No other abnormalities were observed. Laboratory studies excluded immune/autoimmune deficiencies. Karyotype and FISH for 22q11.2 microdeleion were normal. Sequencing of the coding region of the GJB2 gene revealed a de novo heterozygous F142L mutation located in the third transmembrane domain of the Cx26 gene. This mutation has been reported only once, also in a patient with unusual mucocutaneous findings and deafness. Our patient confirms the pathogenic nature of this mutation, delineating associated clinical manifestations.It also points out at the broad and overlaping nature of ectoderm derived tissue changes due to the autosomal dominant GJB2 mutations.

deafness; skin disorder; GJB2 mutation

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