Intron-size constraint as a mutational mechanism in Rothmund-Thomson Syndrome

Lisa L. Wang, Kim Worley, Anu Gannavarapu, Murali Chintagumpala, Moise L. Levy, Sharon E. Plon

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8. The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with RTS who has a novel 11-bp intronic deletion, and we show that this mutation results in a 66-bp intron too small for proper splicing. Constraint on intron size may represent a general mutational mechanism, since human-genome analysis reveals that ∼15% of genes have introns <100 bp and are therefore susceptible to size constraint. Thus, monitoring of intron size may allow detection of mutations missed by exon-by-exon approaches.

Original languageEnglish (US)
Pages (from-to)165-167
Number of pages3
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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