Article
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.
American journal of human genetics - 1 Jul 2002
Wang Lisa L, Worley Kim, Gannavarapu Anu, Chintagumpala Murali M, Levy Moise L, Plon Sharon E
Abstract excerpt
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...
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