PMID- 10319867
OWN - NLM
STAT- MEDLINE
DCOM- 19990525
LR  - 20131121
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 1
DP  - 1999 May
TI  - Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
PG  - 82-4
AB  - Rothmund-Thomson syndrome (RTS; also known as poikiloderma congenitale) is a
      rare, autosomal recessive genetic disorder characterized by abnormalities in skin
      and skeleton, juvenile cataracts, premature ageing and a predisposition to
      neoplasia. Cytogenetic studies indicate that cells from affected patients show
      genomic instability often associated with chromosomal rearrangements causing an
      acquired somatic mosaicism. The gene(s) responsible for RTS remains unknown. The 
      genes responsible for Werner and Bloom syndromes (WRN and BLM, respectively) have
      been identified as homologues of Escherichia coli RecQ, which encodes a DNA
      helicase that unwinds double-stranded DNA into single-stranded DNAs. Other
      eukaryotic homologues thus far identified are human RECQL, Saccharomyces
      cerevisiae SGS1 and Schizosaccharomyces pombe rqh1. We recently cloned two new
      human helicase genes, RECQL4 at 8q24.3 and RECQL5 at 17q25, which encode members 
      of the RecQ helicase family. Here, we report that three RTS patients carried two 
      types of compound heterozygous mutations in RECQL4. The fact that the mutated
      alleles were inherited from the parents in one affected family and were not found
      in ethnically matched controls suggests that mutation of RECQL4 at human
      chromosome 8q24.3 is responsible for at least some cases of RTS.
FAU - Kitao, S
AU  - Kitao S
AD  - AGENE Research Institute, Kamakura, Japan.
FAU - Shimamoto, A
AU  - Shimamoto A
FAU - Goto, M
AU  - Goto M
FAU - Miller, R W
AU  - Miller RW
FAU - Smithson, W A
AU  - Smithson WA
FAU - Lindor, N M
AU  - Lindor NM
FAU - Furuichi, Y
AU  - Furuichi Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Isoenzymes)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 3.6.1.- (RECQL4 protein, human)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - EC 3.6.4.12 (RecQ Helicases)
SB  - IM
MH  - Adenosine Triphosphatases/*genetics
MH  - Base Sequence
MH  - Cells, Cultured
MH  - DNA Helicases/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Isoenzymes/*genetics
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - RecQ Helicases
MH  - Rothmund-Thomson Syndrome/*genetics
EDAT- 1999/05/13 02:03
MHDA- 2001/03/23 10:01
CRDT- 1999/05/13 02:03
PHST- 1999/05/13 02:03 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/05/13 02:03 [entrez]
AID - 10.1038/8788 [doi]
PST - ppublish
SO  - Nat Genet. 1999 May;22(1):82-4. doi: 10.1038/8788.