Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene.

Authors: Zlotogorski, A  Ahmad, W  Christiano, AM 
Citation: Zlotogorski A, etal., Hum Genet. 1998 Oct;103(4):400-4.
Pubmed: (View Article at PubMed) PMID:9856480

Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified missense mutations in families with congenital atrichia. Here, we report the first deletion mutation (2147del C) in exon 9 of the human hairless gene leading to a frameshift and downstream premature termination codon in five Palestinian families of Arab origin.


Disease Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 1599576
Created: 2007-02-07
Species: All species
Last Modified: 2007-02-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.