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Related Experiment Videos

A common FGFR3 gene mutation in hypochondroplasia

P Prinos1, T Costa, A Sommer

  • 1Department of Pediatrics, University of Connecticut Health Center, Farmington 06030, USA.

Human Molecular Genetics
|November 1, 1995
PubMed
Summary

Hypochondroplasia, a genetic disorder causing disproportionate short stature, is linked to mutations in the FGFR3 gene. This study identifies specific FGFR3 gene mutations as the underlying cause of hypochondroplasia.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Hypochondroplasia is a genetic disorder characterized by disproportionate short stature.
  • Previous linkage analysis suggested a potential association with the FGFR3 gene on chromosome 4p16.3.

Purpose of the Study:

  • To investigate the genetic basis of hypochondroplasia.
  • To identify specific mutations in the FGFR3 gene associated with the hypochondroplasia phenotype.

Main Methods:

  • Linkage analysis in a three-generation family.
  • RT-PCR and direct sequencing of the FGFR3 gene (mRNA and genomic DNA).
  • Genotyping using polymorphic markers flanking the FGFR3 gene.

Main Results:

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  • No recombinants were observed between the hypochondroplasia phenotype and FGFR3-flanking markers.
  • A C-->A transversion in nucleotide 1659 of FGFR3, leading to an N540K substitution, was identified in multiple unrelated families.
  • A second mutation, a C-->G transversion at nucleotide 1659 (also N540K), was found in another family.

    • Conclusions:

    • These findings establish that mutations in the FGFR3 gene are the common cause of hypochondroplasia.
    • Specific mutations within the FGFR3 gene, particularly those resulting in an N540K substitution, underlie the hypochondroplasia phenotype.