Ectodermal dysplasia
Gene: DSG4Added '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.
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
gene: DSG4 was added gene: DSG4 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG4 were set to 15304105 Phenotypes for gene: DSG4 were set to HYPT6; localized autosomal recessive hypotrichosis-1 (LAH1); Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Localized AR Hypotrichosis; localized autosomal recessive hypotrichosis; Hypotrichosis 6, 607903; Hypotrichosis simplex (HS)