Non-syndromic hypotrichosisGene: 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.
Created: 21 Jan 2017, 11:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypotrichosis with broken hairs and follicular hyperkeratosis; variable severity and extent
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.
Mode of inheritance for DSG4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for DSG4 were set to 15304105
Phenotypes for DSG4 were set to Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); localized autosomal recessive hypotrichosis-1 (LAH1); Autosomal recessive hypotrichosis; Hypotrichosis 6, 607903; HYPT6; Localized AR Hypotrichosis; localized autosomal recessive hypotrichosis; Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
Phenotypes for gene DSG4 were set to Hereditary hypotrichosis simplex; Hypotrichosis simplex; HS; HHS; LAH1; localized autosomal recessive hypotrichosis-1; Autosomal recessive hypotrichosis; Hypotrichosis 6, 607903; HYPT6;Localized AR Hypotrichosis; localized autosomal recessive hypotrichosis
DSG4 was added to Non-syndromic hypotrichosispanel. Source: Illumina TruGenome Clinical Sequencing Services
DSG4 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
DSG4 was created by rfoulger
DSG4 was added to Non-syndromic hypotrichosispanel. Sources: Other