title: Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.
abstract: Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.
authors.affiliation: Department of Genetics, Hospital Central Dr. Ignacio Morones Prieto, Monterrey, N.L., Mexico.
authors.forename: Carmen
authors.initials: C
authors.lastname: Esmer
authors.affiliation: Department of Basic Sciences, Universidad de Monterrey, Monterrey, N.L., Mexico.
authors.forename: Julio C
authors.initials: JC
authors.lastname: Salas-Alanis
authors.affiliation: Department of Basic Sciences, Universidad de Monterrey, Monterrey, N.L., Mexico.
authors.forename: Oscar R
authors.initials: OR
authors.lastname: Fajardo-Ramirez
authors.affiliation: Department of Pediatric Dermatology, Hospital del Niño y la Mujer, Monterrey, N.L., Mexico.
authors.forename: Brenda
authors.initials: B
authors.lastname: Ramírez
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, USA.
authors.forename: Rong
authors.initials: R
authors.lastname: Hua
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, USA.
authors.forename: Keith
authors.initials: K
authors.lastname: Choate
mesh_terms: D000072259:Connexin 26 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007634:Keratitis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D018805:Sepsis / Q000401:mortality*
chemical_list: D000072259:Connexin 26