RGD Reference Report - Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. - Rat Genome Database

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Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

Authors: Levy-Nissenbaum, E  Betz, RC  Frydman, M  Simon, M  Lahat, H  Bakhan, T  Goldman, B  Bygum, A  Pierick, M  Hillmer, AM  Jonca, N  Toribio, J  Kruse, R  Dewald, G  Cichon, S  Kubisch, C  Guerrin, M  Serre, G  Nothen, MM  Pras, E 
Citation: Levy-Nissenbaum E, etal., Nat Genet. 2003 Jun;34(2):151-3.
RGD ID: 1599783
Pubmed: PMID:12754508   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1163   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
alopecia  IAGP 1599783hypotrichosis simplex of the scalp and OMIM:146520 DNA:point_mutation:CDS:C643T or C598T -> amino acid Q215X or Q200XRGD 
alopecia  ISOCDSN (Homo sapiens)1599783hypotrichosis simplex of the scalp and OMIM:146520RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cdsn  (corneodesmosin)

Genes (Homo sapiens)
CDSN  (corneodesmosin)


Additional Information