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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 mutation	Chromosome rearrangement	Effect	Comments
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