Non-syndromic hypotrichosis

Gene: CDSN

Comment 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.

Green List (high evidence)

Large kindreds reported.

Created: 21 Jan 2017, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted