A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
| Autor: | Christine Bodemer, Laurence Jonard, Sylvie Freitag, M'hamed Grati, Delphine Feldmann, Rémy Couderc, Céleste Koval, Françoise Denoyelle, Martine Sinico, Sandrine Marlin, Smail Hadj-Rabia, Christophe Parsy |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Keratitis–ichthyosis–deafness syndrome Eye disease Connexin Disease Deafness medicine.disease_cause Connexins Fatal Outcome Diseases in Twins Twins Dizygotic otorhinolaryngologic diseases Genetics Humans Medicine Genetics (clinical) Keratitis Mutation business.industry Genetic heterogeneity Transmission (medicine) Infant Newborn Ichthyosis Infant Syndrome General Medicine medicine.disease Dermatology Dyskeratosis Connexin 26 Female business |
| Zdroj: | European Journal of Medical Genetics. 51:35-43 |
| ISSN: | 1769-7212 |
| Popis: | Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect. KID consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. A rare form of the KID syndrome is a fatal course in the first year of life due to severe skin lesion infections and septicaemia. KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes. GJB2 mutations in the connexin 26 gene are the main cause of the disease. Most of the cases caused by GJB2 mutations are sporadic, but dominant transmission has also been described. To date, the rare lethal form of the disease has been only observed in two Caucasian sporadic patients with the GJB2 mutation, with the p.Gly45Glu (G45E) arising de novo. We have reported an African family with dizygotic twins suffering from a lethal form of KID. The dizygosity of the twins was confirmed by microsatellite markers. The two patients were heterozygous for the G45E mutation of GJB2, whereas the mutation was not detected in the two parents. The unusual transmission of the disease observed in this family could be explained by the occurrence of a somatic or more probably a germinal mosaic in one of the parents. |
| Databáze: | OpenAIRE |
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