title: Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
abstract: X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389-kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.
authors.affiliation: Departments of Genetics and Development, Columbia University, New York, NY, USA.
authors.forename: Gina M
authors.initials: GM
authors.lastname: DeStefano
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Fantauzzo
authors.forename: Lynn
authors.initials: L
authors.lastname: Petukhova
authors.forename: Mazen
authors.initials: M
authors.lastname: Kurban
authors.forename: Marija
authors.initials: M
authors.lastname: Tadin-Strapps
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
authors.forename: Dorothy
authors.initials: D
authors.lastname: Warburton
authors.forename: Elizabeth T
authors.initials: ET
authors.lastname: Cirulli
authors.forename: Yujun
authors.initials: Y
authors.lastname: Han
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Sun
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Shen
authors.forename: Maryam
authors.initials: M
authors.lastname: Shirazi
authors.forename: Vaidehi
authors.initials: V
authors.lastname: Jobanputra
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Cepeda-Valdes
authors.forename: Julio
authors.initials: J
authors.lastname: Cesar Salas-Alanis
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D002874:Chromosome Mapping; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics* / Q000502:physiology*; D005786:Gene Expression Regulation; D008040:Genetic Linkage; D015894:Genome, Human; D018859:Hair Follicle / Q000254:growth & development / Q000502:physiology; D006579:Heterozygote; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000235:genetics; D015603:Keratinocytes / Q000378:metabolism; D008297:Male; D051379:Mice; D016254:Mutagenesis, Insertional; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D012333:RNA, Messenger; C108111:fibroblast growth factor 13; D005346:Fibroblast Growth Factors
keywords: congenital hypertrichosis; excessive hair growth