title: Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
abstract: Mutations in the gene HR coding for the hairless protein are associated with atrichia with papular lesions (APL), an autosomal recessive form of alopecia universalis that is characterized by generalized scalp and body atrichia with papular lesions. We here describe a South Italian family of ancient Albanian heritage. The full phenotype with complete atrichia was expressed in 2 siblings, whereas the parents and one sister were unaffected. Direct sequencing of the gene coding for the hairless protein allowed the identification of a new mutation in exon 17. Consistent with the recessive inheritance of the disease, both the siblings were homozygous for the mutation, whereas the parents and the unaffected sister where heterozygous. A relevant discrepancy with a haplotype linkage study is reported, stressing the importance of gene sequencing in genetic diagnosis and counseling because linkage studies can be biased by recombination events.
authors.affiliation: Unit of Genetic Pathology, University Hospital Policlinico Mater Domini, Department of Experimental and Clinical Medicine, University of Catanzaro, Viale Salvatore Venuta, Catanzaro, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Nucara
authors.forename: Emma
authors.initials: E
authors.lastname: Colao
authors.forename: Graziella
authors.initials: G
authors.lastname: Mangone
authors.forename: Francesco
authors.initials: F
authors.lastname: Baudi
authors.forename: Fernanda
authors.initials: F
authors.lastname: Fabiani
authors.forename: Donatella
authors.initials: D
authors.lastname: Nocera
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Passafaro
authors.forename: Teresa
authors.initials: T
authors.lastname: Longo
authors.forename: Anna Elisa
authors.initials: AE
authors.lastname: Laria
authors.forename: Paola
authors.initials: P
authors.lastname: Malatesta
authors.forename: Rosario
authors.initials: R
authors.lastname: Amato
authors.forename: Francesco
authors.initials: F
authors.lastname: Trapasso
authors.forename: Nicola
authors.initials: N
authors.lastname: Perrotti
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002898:Chromosomes, Human, Pair 8; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology
chemical_list: C490267:HR protein, human; D014157:Transcription Factors