Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

Saori Kitao, Akira Shimamoto, Makoto Goto, Robert W. Miller, William A. Smithson, Noralane Morey Lindor, Yasuhiro Furuichi

Research output: Contribution to journalArticle

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Abstract

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 (refs 13,14), Saccharomyces cerevisiae SGS1 (refs 15,16) and Schizosaccharomyces pombe rqh1+ (ref. 17). 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.

Original languageEnglish (US)
Pages (from-to)82-84
Number of pages3
JournalNature Genetics
Volume22
Issue number1
DOIs
StatePublished - May 1999

Fingerprint

Rothmund-Thomson Syndrome
Mutation
RecQ Helicases
Skin Abnormalities
Bloom Syndrome
Werner Syndrome
Genes
DNA Helicases
Premature Aging
Inborn Genetic Diseases
Mosaicism
Schizosaccharomyces
Genomic Instability
Single-Stranded DNA
Human Chromosomes
Skeleton
Cytogenetics
Cataract
Saccharomyces cerevisiae
Parents

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M., & Furuichi, Y. (1999). Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature Genetics, 22(1), 82-84. https://doi.org/10.1038/8788

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. / Kitao, Saori; Shimamoto, Akira; Goto, Makoto; Miller, Robert W.; Smithson, William A.; Lindor, Noralane Morey; Furuichi, Yasuhiro.

In: Nature Genetics, Vol. 22, No. 1, 05.1999, p. 82-84.

Research output: Contribution to journalArticle

Kitao, S, Shimamoto, A, Goto, M, Miller, RW, Smithson, WA, Lindor, NM & Furuichi, Y 1999, 'Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome', Nature Genetics, vol. 22, no. 1, pp. 82-84. https://doi.org/10.1038/8788
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature Genetics. 1999 May;22(1):82-84. https://doi.org/10.1038/8788
Kitao, Saori ; Shimamoto, Akira ; Goto, Makoto ; Miller, Robert W. ; Smithson, William A. ; Lindor, Noralane Morey ; Furuichi, Yasuhiro. / Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. In: Nature Genetics. 1999 ; Vol. 22, No. 1. pp. 82-84.
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