Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-04-2009
Symbol TNTP2
Location 4p16.3
Name thanatophoric dysplasia, type 2
Other name(s)
  • thanatophoric dysplasia with straight femurs and cloverleaf skull
  • thanatophoric dysplasia with kleeblattschaedel
  • cloverleaf skull with thanatophoric dwarfism
    • Corresponding gene FGFR3
    Other symbol(s) TD2
    Main clinical features cloverleaf skull or craniosynostosis, lethal dwarfism
    Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name fibroblast growth factor receptor 3 (FGFR3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   abnormal protein/gain of function substitution K650E causes constitutive tyrosine kinase activity of the receptor and co-localization with calreticulin in the endoplasmic reticulum
    Remark(s) . premature synchondrosis closure in the spine and cranial base in human cases of homozygous thanatophoric dysplasia (Matsushita 2009)