title: Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
abstract: We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.
authors.affiliation: Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel and Tel Aviv University, Tel Aviv, Israel.
authors.forename: Etgar
authors.initials: E
authors.lastname: Levy-Nissenbaum
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Michel
authors.initials: M
authors.lastname: Simon
authors.forename: Hadas
authors.initials: H
authors.lastname: Lahat
authors.forename: Tengiz
authors.initials: T
authors.lastname: Bakhan
authors.forename: Boleslaw
authors.initials: B
authors.lastname: Goldman
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
authors.forename: Monika
authors.initials: M
authors.lastname: Pierick
authors.forename: Axel M
authors.initials: AM
authors.lastname: Hillmer
authors.forename: Nathalie
authors.initials: N
authors.lastname: Jonca
authors.forename: Jaime
authors.initials: J
authors.lastname: Toribio
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
authors.forename: Georg
authors.initials: G
authors.lastname: Dewald
authors.forename: Sven
authors.initials: S
authors.lastname: Cichon
authors.forename: Christian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Marina
authors.initials: M
authors.lastname: Guerrin
authors.forename: Guy
authors.initials: G
authors.lastname: Serre
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Elon
authors.initials: E
authors.lastname: Pras
mesh_terms: D001483:Base Sequence; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D008040:Genetic Linkage; D006023:Glycoproteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D018859:Hair Follicle / Q000378:metabolism; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D007150:Immunohistochemistry; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D012535:Scalp / Q000378:metabolism / Q000473:pathology
chemical_list: C109656:CDSN protein, human; D018389:Codon, Nonsense; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins; D004247:DNA