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Am J Hum Genet. 2002 Jul;71(1):165-7. Epub 2002 May 9.

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.

Author information

1
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

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 approximately 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.

PMID:
12016592
PMCID:
PMC384974
DOI:
10.1086/341234
[Indexed for MEDLINE]
Free PMC Article

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