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GENATLAS PHENOTYPE
last update : 5/09/2006
Symbol LADD1
Location 10q26.13
Name lacrimo-auriculo-dento-digital syndrome 1
Other name(s) Levy-Hollister syndrome
Corresponding gene FGFR2
Main clinical features
  • aplasia or hypoplasia of the puncta with obstruction of the nasal lacrimal ducts, auricular cup-shaped pinnas with mixed hearing deficit, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia, fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and syndactyly
  • Genetic determination autosomal dominant
    Function/system disorder eye
    osteo-articular
    ear
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation in the tyrosine kinase domain in both the activation loop and in the catalytic loop
    Remark(s) A628T mutation altered the catalytic pocket, which would compromise the ability of the tyrosine kinase to coordinate its substrate and thus, lead to the partial FGFR2 inactiavation