Non-syndromic hypotrichosis

Gene: KRT74

Comment on list classification: Updated rating from Amber to Green: Although only 1 case of Hypotrichosis, there are additional Woolly hair cases that could be considered hypotrichosis (see Reviewer's comments).

Created: 20 Feb 2017, 2 p.m.

Comment on list classification: Updated rating from Red to Amber: 1 case of hypotrichosis (PMID:21188418), 1 case of ecotodermal dysplasia hair/nail (PMID:24714551, Alice previously commented that if ectodermal dysplasia is mild, the hypotrichosis could be the main presenting phenotype), and 2 Pakistani cases of Woolly hair.

Created: 16 Feb 2017, 9:46 a.m.

Comment on KRT74 from Celia Moss to support her Green rating of the gene: There are Pakistani families with woolly hair and this term is sometimes used synonymously with hypotrichosis (woolly hair is usually fine, short and sparse although hypotrichosis is not necessarily wooly). So I considered those families to have hypotrichosis.

Created: 16 Feb 2017, 9:42 a.m.

Comment on mode of inheritance: Mode of inheritance confirmed by PMID:21188418.

Created: 24 Jan 2017, 3:07 p.m.

In affected members of a consanguineous Pakistani family segregating autosomal dominant hypotrichosis simplex of the scalp (HYPT3; OMIM:613981), Wasif et al. (2011, PMID:21188418) identified a heterozygous 1444G-A transition in KRT74 (D482N). The mutation was not detected in 300 unrelated control individuals.

Created: 24 Jan 2017, 3:02 p.m.

Green List (high evidence)

May be associated with nail abnormalities so not strictly non-syndromic

Created: 20 Jan 2017, 5:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 3; Woolly hair, autosomal dominant