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Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily by Elena G. Bochukova; Tony Roscioli; Dale J. Hedges; Indira B. Taylor; David Johnson; David J. David; Prescott L. Deininger; Andrew O.M. Wilkie is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 (FGFR2) are responsible for 498% of cases. Here we describe two novel mutations in FGFR2 in the two patients in whom a mutation had not previously been found in our cohort of 227 AS cases. The first is a 1.93-kb deletion, removing exon IIIc and substantial portions of the flanking introns. This is the first large FGFR2 deletion described in any individual with craniosynostosis. The other mutation is a 5 0 truncated Alu insertion into exon IIIc. This is the third Alu insertion identified in AS; all have occurred within an interval of only 104 bp, representing an enrichment of over a million-fold compared to the background genomic rate. We show that the inserted Alu element belongs to a small subfamily, not previously known to be mobile, which we term Alu Yk13. Both the deletion and insertion are likely to act by a similar gain-of-function mechanism in which disruption of exon IIIc leads to illegitimate mesenchymal expression of an FGFR2 sp

Who reads Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily?

Author

Elena G. Bochukova; Tony Roscioli; Dale J. Hedges; Indira B. Taylor; David Johnson; David J. David; Prescott L. Deininger; Andrew O.M. Wilkie

Publisher

Hindawi Limited

Published

2009

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)