TY - JOUR
T1 - De novo mutations in monilethrix
AU - Horev, Liran
AU - Djabali, Karima
AU - Green, Jack
AU - Sinclair, Rodney
AU - Martinez-Mir, Amalia
AU - Ingber, Arieh
AU - Christiano, Angela M.
AU - Zlotogorski, Abraham
PY - 2003/12
Y1 - 2003/12
N2 - Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in which the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb3 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).
AB - Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in which the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb3 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).
KW - De novo mutation
KW - Hair
KW - Keratins
KW - Monilethrix
UR - http://www.scopus.com/inward/record.url?scp=0346339843&partnerID=8YFLogxK
U2 - 10.1111/j.0906-6705.2003.00022.x
DO - 10.1111/j.0906-6705.2003.00022.x
M3 - Article
C2 - 14714571
AN - SCOPUS:0346339843
SN - 0906-6705
VL - 12
SP - 882
EP - 885
JO - Experimental Dermatology
JF - Experimental Dermatology
IS - 6
ER -