title: An unusual mucocutaneous syndrome with sensorineural deafness due to connexin 26 mutations.
abstract: Mutations of the GJB2 gene, which encodes connexin 26, are related to a range of conditions associated with sensorineural deafness and keratinization disorders. We present the case of a newborn girl with sensorineural deafness, erythematous hyperkeratotic plaques on intertriginous areas, and parakeratosis on the oral and esophageal mucosa. She had an F142L mutation in exon 1 of the GJB2 gene, which was described previously in a patient with a similar phenotype.
authors: Unidad de Gestión Clínica de Pediatría.
authors: María M
authors: MM
authors: Ibáñez
authors: María M
authors: MM
authors: Alcalde
authors: María R
authors: MR
authors: Jiménez
authors: María D
authors: MD
authors: Muñoz
authors: Francisco J
authors: FJ
authors: Díez-Delgado
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009061:Mouth Mucosa / Q000473:pathology; D010290:Parents; D012867:Skin / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26