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Cited by 614Craniofacial Disorders and TreatmentsConnective tissue disorders researchGenomics and Rare Diseases

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

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Muenke, Maximilian, Schell, Ute, Hehr, Andreas, Robin, Nathaniel H., Losken, H. Wolfgang, Schinzel, Albert, Pulleyn, Louise J., Rutland, Paul +3 more·1994·Nature Genetics
DOI 10.1038/ng1194-269
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Abstract

Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder.

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  • Gain-of-function mutations in FGFR1 are associated with myeloproliferative disorders leading to leukemia.

    “Gain-of-function mutations in FGFR1 are associated with myeloproliferative disorders leading to leukemia, as well as hereditary conditions leading to skeletal and craniofacial abnormalities, both of which are common in DS78–80.”

    From Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation (2017) · cites this paper as [79]

  • Gain-of-function mutations in FGFR1 are associated with hereditary conditions leading to skeletal and craniofacial abnormalities.

    “Gain-of-function mutations in FGFR1 are associated with myeloproliferative disorders leading to leukemia, as well as hereditary conditions leading to skeletal and craniofacial abnormalities, both of which are common in DS78–80.”

    From Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation (2017) · cites this paper as [79]

  • Myeloproliferative disorders leading to leukemia and hereditary skeletal/craniofacial abnormalities are common in Down syndrome.

    “Gain-of-function mutations in FGFR1 are associated with myeloproliferative disorders leading to leukemia, as well as hereditary conditions leading to skeletal and craniofacial abnormalities, both of which are common in DS78–80.”

    From Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation (2017) · cites this paper as [79]

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Authors
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., & Winter, R. M.
Affiliations
  • Children's Hospital of Philadelphia (US)
  • University of Pittsburgh (US)
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
1994-11
Volume
8
Issue
3
Pages
269-274
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng1194-269
OpenAlex
W2168117739
Cited by
614
References
0
Citations by year
2026: 5 · 2025: 8 · 2024: 6 · 2023: 6 · 2022: 5 · 2021: 11 · 2020: 14 · 2019: 11 · 2018: 13 · 2017: 9 · 2016: 17 · 2015: 13 · 2014: 15 · 2013: 21 · 2012: 15
FWCI
24.53
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
  • Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
  • Zurich Open Repository and Archive (University of Zurich)
Funders
  • National Institutes of Health (5r29hd028732-02, 5t32hd007107-21)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (5T32HD07107, R29 HD28732)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
Pfeiffer syndrome, FGFR1, craniosynostosis, autosomal dominant inheritance, chromosome 8p, extracellular domain mutations, bone disease
MeSH terms
Abnormalities, Multiple, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 8, Craniosynostoses, Exons, Female, Genes, Humans, Lod Score, Male, Molecular Sequence Data, Pedigree, Syndrome, Thumb, Toes, Point Mutation, Protein Structure, Tertiary, Receptors, Fibroblast Growth Factor, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 1

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