Non-syndromic hypotrichosis
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; Hypotrichosis 2, 146520; HYPT2 to Hypotrichosis 2, OMIM:146520
20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.
Publications for CDSN were set to 12754508; 23746069; 22875505
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CDSN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene CDSN were set to hypotrichosis simplex of the scalp; Hypotrichosis 2, 146520; HYPT2;
CDSN was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
CDSN was created by rfoulger
CDSN was added to Non-syndromic hypotrichosispanel. Sources: Other