Non-syndromic hypotrichosis

Gene: DSG4

Added 'deletions' tag based on PMID:15304105 (Moss et al., 2004) who studied a family of Pakistani origin with two siblings affected with LAH (OMIM:607903). The two affected children, a 5 year old girl and 18 month boy, have two sisters with normal hair. Their parents, first cousins of Pakistani origin, are unaffected. Sequence analysis of DSG4 revealed a homozygous deletion encompassing exons 5 through 8 in the two affected individuals leading to an internally truncated protein. Other deletions are recorded in OMIM:607903 for DSG4.

Created: 24 Jan 2017, 4:15 p.m.

Comment on mode of inheritance: Biallelic mode of inheritance is confirmed by OMIM: All reports for Hypotrichosis (OMIM:607903) identify homozygous or compound heterozygous DSG4 mutations. PMID:15304105 (Moss et al., 2004) also identify a homozgyous deletion.

Created: 24 Jan 2017, 4:12 p.m.

Comment on list classification: Updated rating from Amber to Green: Not yet a confirmed DDG2P gene for hypotrichosis, but 1 Green review plus >3 cases of DSG4 mutations causing Hypotrichosis (OMIM:607903) in a mix of populations.

Created: 23 Jan 2017, 3:43 p.m.

Green List (high evidence)

Well established.

Created: 21 Jan 2017, 11:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis with broken hairs and follicular hyperkeratosis; variable severity and extent

Publications

• PMID: 15304105