Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily
Open accessAbstract
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 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' 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 spliceform containing the alternatively spliced exon IIIb. All the AS-associated Alu insertions have arisen in the paternal germline; we propose that their enrichment in FGFR2 is driven by positive selection of the mutant spermatogonial progenitors, a mechanism analogous to that explaining why the canonical AS nucleotide substitutions also reach exceptionally high levels in sperm.
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Abnormal splicing of the IIIc exon tends to be associated with more severe limb abnormalities, so these mutations generally present with Pfeiffer or occasionally Apert syndrome (Alu element insertions).
“Abnormal splicing of the IIIc exon tends to be associated with more severe limb abnormalities, so these mutations generally present with Pfeiffer or occasionally even Apert syndrome (Alu element insertions).21”
From Craniosynostosis (2011) · cites this paper as [21]
The Introduction (page unavailable) says most mutations altering IIIc splicing cause a Pfeiffer-like phenotype, while Alu insertions are associated with Apert syndrome. The Discussion (page unavailable) says syndactyly seems particularly severe in the Apert patients with IIIc mutations compared with those with canonical IIIa mutations. It does not establish a general tendency toward more severe limb abnormalities across all IIIc-splicing mutations or identify that severity as the reason for the syndrome presentation. (LLM, conf=0.84)
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Self-citationAdditional file 1 of Transposable elements that have recently been mobile in the human genome
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Self-citation
- Authors
- Bochukova, E. G., Roscioli, T., Hedges, D. J., Taylor, I. B., Johnson, D., David, D. J., Deininger, P. L., & Wilkie, A. O. M.
- Affiliations
- University of Oxford (GB)
- The University of Sydney (AU)
- Tulane University (US)
- National Health Service (GB)
- Women's and Children's Hospital (AU)
- Corresponding author
- Wilkie, Andrew O.M.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2009-02
- Volume
- 30
- Issue
- 2
- Pages
- 204-211
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2047240624
- Cited by
- 66
- References
- 46
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 5 · 2020: 4 · 2019: 4 · 2018: 3 · 2017: 3 · 2016: 2 · 2015: 2 · 2014: 4 · 2013: 6 · 2012: 2
- FWCI
- 3.24
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Wellcome Trust (078666)
- National Institute of General Medical Sciences (R01GM045668)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Apert syndrome, FGFR2, partial gene deletion, Alu insertion, gain-of-function mutations, craniosynostosis, syndactyly, alternative splicing, positive selection, novel mutations
- MeSH terms
- Acrocephalosyndactylia, Adolescent, Adult, Base Sequence, Child, Preschool, DNA Mutational Analysis, Exons, Fathers, Humans, Infant, Male, Molecular Sequence Data, Genome, Human, Mutagenesis, Insertional, Gene Deletion, Base Pairing, Alu Elements, Receptor, Fibroblast Growth Factor, Type 2
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