Unknown

Dataset Information

0

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

ABSTRACT: BACKGROUND:Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described. CASE PRESENTATION:We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution. CONCLUSION:This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.

SUBMITTER: Dalamon VK 

PROVIDER: S-EPMC4855445 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Dalamón Viviana Karina VK   Buonfiglio Paula P   Larralde Margarita M   Craig Patricio P   Lotersztein Vanesa V   Choate Keith K   Pallares Norma N   Diamante Vicente V   Elgoyhen Ana Belén AB  

BMC medical genetics 20160504 1

<h4>Background</h4>Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described.<h4>Case presentation</h4>We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair.  ...[more]

Similar Datasets

Unknown Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
| S-EPMC447609 | biostudies-literature
Unknown Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
| S-EPMC3750395 | biostudies-literature
Unknown A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
| S-EPMC1735685 | biostudies-other
Unknown More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
| S-EPMC6372339 | biostudies-literature
Unknown Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
| S-EPMC5409067 | biostudies-literature
Unknown Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
| S-EPMC2946671 | biostudies-literature
Unknown A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
| S-EPMC1734914 | biostudies-other
Unknown Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
| S-EPMC1287533 | biostudies-literature
Unknown Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
| S-EPMC4528189 | biostudies-literature
Unknown Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.
| S-EPMC5736926 | biostudies-literature