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

Bochukova, EG; Roscioli, T; Hedges, DJ; Taylor, IB; Johnson, D; David, DJ; Deininger, PL; Wilkie, AO

Abstract:

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 >98% 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 s...

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APA Style

Bochukova, E. G., Roscioli, T., Hedges, D. J., Taylor, I. B., Johnson, D., David, D. J., Deininger, P. L., & Wilkie, A. O. (2009). Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Human Mutation, 30(2), 204–211.

MLA Style

Bochukova, E. G., et al. “Rare Mutations of FGFR2 Causing Apert Syndrome: Identification of the First Partial Gene Deletion, and an Alu Element Insertion from a New Subfamily.” Human Mutation, vol. 30, no. 2, 2009, pp. 204–11.

Chicago Style

Bochukova, EG, T Roscioli, DJ Hedges, IB Taylor, D Johnson, DJ David, PL Deininger, and AO Wilkie. 2009. “Rare Mutations of FGFR2 Causing Apert Syndrome: Identification of the First Partial Gene Deletion, and an Alu Element Insertion from a New Subfamily.” Human Mutation 30 (2): 204–11.
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