ArticleThe British journal of dermatology2006
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.
Article in The British journal of dermatology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 26 citations in OpenAlex.
- A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.BMC medical genetics · 2017Article
- Article
- [Genetic hair diseases. An update].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2013Review
- Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.American journal of human genetics · 2012Article
- Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.The Ulster medical journal · 2007Review
- Commonly Associated Disorders with Complete Scalp Alopecia in Early Childhood: A Review.International journal of trichologyReview
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
backgroundEctodermal dysplasias (EDs) describe a large and complex group of disorders characterized by abnormal development of the skin and appendages (hair, nails, teeth and sweat glands). Of the approximately 200 different EDs, about 30 have been studied at the molecular level. In an effort to understand the molecular bases of ED of hair and nail type, we studied a Pakistani consanguineous family with multiple affected individuals.
objectivesTo localize the gene responsible for the autosomal recessive form of ED of hair and nail type.
methodsGenotyping of nine members of the family, including five affected and four normal individuals was performed using microsatellite markers mapping to candidate regions, harbouring genes involved in related phenotypes. Five epithelial keratin genes located in the candidate region were sequenced to identify the pathogenic mutation.
resultsWe mapped the disease locus to a 24.2-cM interval flanked by markers D17S839 and D17S1299 on chromosome 17p12-q21.2 (Z(max) = 4.4). DNA sequencing of five epithelial keratin candidate genes, present in the disease locus, did not reveal any pathogenic mutation in the affected individuals.
conclusionsThe gene for ED of hair and nail type has been mapped to chromosome 17p12-q21.2 in a Pakistani consanguineous family. Failure to detect mutations in epithelial keratin genes suggests that the mutation may lie either in regulatory regions of one of the epithelial keratin genes or in another unknown gene, located in the linkage interval, with a possible role in the development of ectodermal appendages.
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