PMID- 10594761
OWN - NLM
STAT- MEDLINE
DCOM- 20000113
LR  - 20061115
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 113
IP  - 6
DP  - 1999 Dec
TI  - Two different mutations in the same codon of a type II hair keratin (hHb6) in
      patients with monilethrix.
PG  - 1123-7
AB  - Monilethrix is an autosomal dominant hair disorder characterized by a beaded
      appearance of the hair due to periodic thinning of the shaft. The phenotype shows
      variable penetrance and results in hair fragility and patchy dystrophic alopecia.
      Mutations of the helix-encoding region in two hair-specific keratins (hHb1 and
      hHb6) have been identified. We have now investigated two unrelated monilethrix
      patients and identified two different novel heterozygous point mutations of the
      same codon in exon 7 of the hHb6 gene. Dystrophic hair samples obtained from both
      patients showed the typical beaded appearance by scanning electron microscopy.
      Both mutations affected the first base of codon 402 (glutamic acid). In patient
      A, a G to C transition occurred causing a glutamine substitution (GAG to CAG:
      E402Q) whereas in patient B, the transition was G to A yielding a lysine
      substitution (GAG to AAG: E402K). The sequence of the 1A helical regions of hHb1 
      and hHb6 as well as the 2B helical region of hHb1, were normal. Unaffected
      relatives did not have the hHb6 mutation and this codon was found to be highly
      conserved showing no alteration in the normal population (100 alleles examined). 
      Both mutations disrupted a Taq I restriction site and restriction fragment length
      polymorphism analysis showed that a diagnostic 361 bp fragment could confirm the 
      mutation. Thus, two new point mutations of the hair-specific keratin gene hHb6
      have been identified in this genetic disease.
FAU - Pearce, E G
AU  - Pearce EG
AD  - Department of Dermatology, University of Wales College of Medicine (UWCM), Heath 
      Park, Cardiff, UK.
FAU - Smith, S K
AU  - Smith SK
FAU - Lanigan, S W
AU  - Lanigan SW
FAU - Bowden, P E
AU  - Bowden PE
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (Codon)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Alopecia/*genetics/pathology
MH  - *Codon
MH  - Hair/pathology
MH  - Humans
MH  - Keratins/*genetics
MH  - *Mutation
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1999/12/14 00:00
MHDA- 1999/12/14 00:01
CRDT- 1999/12/14 00:00
PHST- 1999/12/14 00:00 [pubmed]
PHST- 1999/12/14 00:01 [medline]
PHST- 1999/12/14 00:00 [entrez]
AID - S0022-202X(15)40708-0 [pii]
AID - 10.1046/j.1523-1747.1999.00777.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 1999 Dec;113(6):1123-7. doi: 10.1046/j.1523-1747.1999.00777.x.