Ectodermal dysplasia
Gene: CDSNComment on list classification: Updated rating from Red to Green: 1 expert review plus >3 cases of CDSN mutations causing autosomal dominant hypotrichosis (OMIM:146520) in a range of populations.Created: 23 Jan 2017, 4:36 p.m.
PMID:23746069 (Yang et al., 2014) report a nonsense (c.625C>T) CDSN mutation (p.Q209X) underlying hypotrichosis simplex of the scalp in a Chinese family. This mutation was found in all tested family members with HSS, but not in any of 200 unrelated normal DNA samples.Created: 23 Jan 2017, 4:34 p.m.
PMID: 22875505 (Huang et al, 2012) identify a nonsense (717C>G) CDSN mutation (p.Y239X) in all 3 patients of a Chinese family affected with hypotrichosis simplex of the scalp with an autosomal dominant inheritance. The same mutation was not found among healthy members of the family and 100 healthy controls.Created: 23 Jan 2017, 4:34 p.m.
In 2 families (Spanish and Israeli) with hypotrichosis simplex of the scalp (HYPT2, OMIM:146520), Levy-Nissenbaum et al. (2003, PMID:12754508) identified a Gln215Ter (Q215X) mutation in the CDSN gene.Created: 23 Jan 2017, 4:27 p.m.
In a Dutch family with hypotrichosis simplex of the scalp (HYPT2, OMIM:146520), Levy-Nissenbaum et al. (2003, PMID: 12754508) found a Gln200Ter (Q200X) mutation in the CDSN gene.Created: 23 Jan 2017, 4:26 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 23 Jan 2017, 4:25 p.m.
Large kindreds reported.Created: 21 Jan 2017, 11:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDSN were changed from hypotrichosis simplex of the scalp; HYPT2; Hypotrichosis 2, 146520 to Hypotrichosis 2, OMIM:146520
gene: CDSN was added gene: CDSN was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDSN were set to 23746069; 12754508; 22875505 Phenotypes for gene: CDSN were set to hypotrichosis simplex of the scalp; HYPT2; Hypotrichosis 2, 146520