Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmoplantar keratoderma. In all affected members we identified a new heterozygous GJB2 mutation (c.66G > T, p.Lys22Asn) whose segregation, population frequency and in silico prediction analysis have suggested a pathogenic role. The p.Lys22Asn GJB2 mutation causes a dominant form of hearing loss associated with variable expression of palmoplantar keratoderma, representing a model of full penetrance, with an age-dependent effect on the phenotype.

Fenotipo lieve di sordità neurosensoriale e cheratoderma palmo-plantare causato da una nuova mutazione dominante di GJB2 / Stanghellini, I.; Genovese, E.; Palma, S.; Falcinelli, C.; Presutti, L.; Percesepe, Antonio. - In: ACTA OTORHINOLARYNGOLOGICA ITALICA. - ISSN 0392-100X. - 37:4(2017), pp. 308-311. [10.14639/0392-100X-1382]

Fenotipo lieve di sordità neurosensoriale e cheratoderma palmo-plantare causato da una nuova mutazione dominante di GJB2

Percesepe, Antonio
2017

Abstract

Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmoplantar keratoderma. In all affected members we identified a new heterozygous GJB2 mutation (c.66G > T, p.Lys22Asn) whose segregation, population frequency and in silico prediction analysis have suggested a pathogenic role. The p.Lys22Asn GJB2 mutation causes a dominant form of hearing loss associated with variable expression of palmoplantar keratoderma, representing a model of full penetrance, with an age-dependent effect on the phenotype.
Fenotipo lieve di sordità neurosensoriale e cheratoderma palmo-plantare causato da una nuova mutazione dominante di GJB2 / Stanghellini, I.; Genovese, E.; Palma, S.; Falcinelli, C.; Presutti, L.; Percesepe, Antonio. - In: ACTA OTORHINOLARYNGOLOGICA ITALICA. - ISSN 0392-100X. - 37:4(2017), pp. 308-311. [10.14639/0392-100X-1382]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2837939
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