Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
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.
Levy-Nissenbaum
Etgar
E
Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel and Tel Aviv University, Tel Aviv, Israel.
Betz
Regina C
RC
Frydman
Moshe
M
Simon
Michel
M
Lahat
Hadas
H
Bakhan
Tengiz
T
Goldman
Boleslaw
B
Bygum
Anette
A
Pierick
Monika
M
Hillmer
Axel M
AM
Jonca
Nathalie
N
Toribio
Jaime
J
Kruse
Roland
R
Dewald
Georg
G
Cichon
Sven
S
Kubisch
Christian
C
Guerrin
Marina
M
Serre
Guy
G
Nöthen
Markus M
MM
Pras
Elon
E
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
C109656:CDSN protein, human; D018389:Codon, Nonsense; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins; D004247:DNA