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hidrotic ectodermal dysplasia type 2

MIM.129500 13q12

Tuesday 18 December 2007

Etiology

- Autosomal dominant hidrotic ectodermal dysplasia type 2 (ED2) can be caused by mutation in the GJB6 gene (MIM.604418), which encodes connexin-30.

References

- Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, LemaĆ®tre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Mutations in GJB6 cause hidrotic ectodermal dysplasia.Nat Genet. 2000 Oct;26(2):142-4. PMID: #11017065#

- Lamartine J, Pitaval A, Soularue P, Lanneluc I, LemaĆ®tre G, Kibar Z, Rouleau GA, Waksman G. A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11. Genomics. 2000 Jul 15;67(2):232-6. PMID: #10903849#