Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation

Beáta Bessenyei, Mariann Tihanyi, Marianna Hartwig, Katalin Szakszon, Éva Oláh

Research output: Contribution to journalArticle

6 Citations (Scopus)


Pfeiffer syndrome is an autosomal dominant disorder classically characterized by craniosynostosis, facial dysmorphism and limb anomalies. The majority of cases are caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. A specific, rare mutation p.Pro252Arg, located between the second and third extracellular immunoglobulin-like domain of FGFR1, is associated with mild clinical signs. We report on a three-generation family with five members having a heterozygous FGFR1 p.Pro252Arg mutation. Phenotypic features within the family showed high variability from the apparently normal skull and limbs to the characteristic brachycephaly and digital anomalies. The typical features of Pfeiffer syndrome appeared only in the third generation allowing us to unveil the syndrome in several further family members in two previous generations. Variable expressivity can complicate the recognition of Pfeiffer syndrome, principally the mild type 1, requiring careful phenotyping and genetic counseling.

Original languageEnglish
Pages (from-to)3176-3179
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
Publication statusPublished - Dec 1 2014



  • Clinodactyly
  • Craniosynostosis
  • FGFR1
  • Pfeiffer syndrome
  • Syndactyly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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