A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

Laurence Jonard, Delphine Feldmann, Christophe Parsy, Sylvie Freitag, Martine Sinico, Céleste Koval, Mhamed Grati, Remy Couderc, Françoise Denoyelle, Christine Bodemer, Sandrine Marlin, Smail Hadj-Rabia

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)35-43
Number of pages9
JournalEuropean Journal of Medical Genetics
Volume51
Issue number1
DOIs
StatePublished - Jan 2008
Externally publishedYes

Fingerprint

Mutation
Parents
Exfoliative Dermatitis
Ectodermal Dysplasia
Genetic Databases
Dizygotic Twins
Connexins
Deafness
Microsatellite Repeats
Genes
Keratitis-Ichthyosis-Deafness Syndrome
Sepsis
Skin
Infection
Connexin 26

Keywords

  • Connexin 26
  • G45E
  • GJB2
  • Keratitis-Ichthyosis-Deafness syndrome
  • KID syndrome
  • Mosaicism

ASJC Scopus subject areas

  • Genetics

Cite this

Jonard, L., Feldmann, D., Parsy, C., Freitag, S., Sinico, M., Koval, C., ... Hadj-Rabia, S. (2008). A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. European Journal of Medical Genetics, 51(1), 35-43. https://doi.org/10.1016/j.ejmg.2007.09.005

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. / Jonard, Laurence; Feldmann, Delphine; Parsy, Christophe; Freitag, Sylvie; Sinico, Martine; Koval, Céleste; Grati, Mhamed; Couderc, Remy; Denoyelle, Françoise; Bodemer, Christine; Marlin, Sandrine; Hadj-Rabia, Smail.

In: European Journal of Medical Genetics, Vol. 51, No. 1, 01.2008, p. 35-43.

Research output: Contribution to journalArticle

Jonard, L, Feldmann, D, Parsy, C, Freitag, S, Sinico, M, Koval, C, Grati, M, Couderc, R, Denoyelle, F, Bodemer, C, Marlin, S & Hadj-Rabia, S 2008, 'A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E', European Journal of Medical Genetics, vol. 51, no. 1, pp. 35-43. https://doi.org/10.1016/j.ejmg.2007.09.005
Jonard, Laurence ; Feldmann, Delphine ; Parsy, Christophe ; Freitag, Sylvie ; Sinico, Martine ; Koval, Céleste ; Grati, Mhamed ; Couderc, Remy ; Denoyelle, Françoise ; Bodemer, Christine ; Marlin, Sandrine ; Hadj-Rabia, Smail. / A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. In: European Journal of Medical Genetics. 2008 ; Vol. 51, No. 1. pp. 35-43.
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