ArticleJournal of dermatological science2007
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.
Article in Journal of dermatological science, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Article
- Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene.Journal of dermatological case reports · 2013Article
- Characterization of hairless (Hr) and FGF5 genes provides insights into the molecular basis of hair loss in cetaceans.BMC evolutionary biology · 2013Article
- Atrichia with papular lesions.International journal of trichology · 2011Article
- Detection of a novel missense mutations in atrichia with papular lesions.Annals of dermatology · 2011Article
- The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.Human heredity · 2009Article
- Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.Genomics · 2008Article
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5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAtrichia with papular lesions (APL) is a rare autosomal recessive form of inherited alopecia. Affected individuals present with a distinct pattern of total hair loss on the scalp, axilla and body shortly after birth and are essentially devoid of eyelashes and eyebrows. This form of hair loss is irreversible and the histology is consistent with an absence of mature hair follicles. In addition to total atrichia, APL patients also present with papules and follicular cysts filled with cornified material. Mutations in the Hairless (HR) gene have been shown to underlie APL.
objectiveHere, we studied five unrelated large Pakistani families with clinical manifestations of APL.
methodsBased on previous reports of HR mutations in APL, we performed direct DNA sequencing analysis.
resultsDNA sequencing of the HR gene in APL patients revealed three novel nonsense mutations in five unrelated families. All affected individuals were homozygous for a nonsense mutation due to C-to-T transitions at different positions in the amino acid sequence. Two families carry the mutation Q323X (CAG-TAG) in exon 3, two families harbor the mutation Q502X (CAG-TAG) in exon 6, and one family had a mutation at R940X (CGA-TGA) in exon 14. Haplotype analysis revealed that all affected individuals of both APL1 and APL16 families were homozygous for the same haplotype, and likewise, the mutation in families APL2 and APL19 was on the same haplotype.
conclusionsWe report three novel nonsense mutations in the HR gene in APL. Two of the newly identified mutations, Q323X and Q502X, were found to be shared between unrelated families and marker analysis confirmed an identical homozygous haplotype for APL1 and APL16, and for APL2 and APL19. These findings suggest that Q323X and Q502X did not arise independently, but instead appear to have been propagated in the population. Collectively, these findings contribute further evidence for the involvement of hairless mutations in papular atrichia.
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