De novo mutations in monilethrix.
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 whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 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).
Horev
Liran
L
Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.
Djabali
Karima
K
Green
Jack
J
Sinclair
Rodney
R
Martinez-Mir
Amalia
A
Ingber
Arieh
A
Christiano
Angela M
AM
Zlotogorski
Abraham
A
D020816:Amino Acid Motifs; D004252:DNA Mutational Analysis; D005091:Exons; D005838:Genotype; D006201:Hair Diseases / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008239:Lysine / Q000737:chemistry; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA
D007633:Keratins; D008239:Lysine