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GENATLAS PHENOTYPE

last update : 01-06-2009

Symbol	PSDY2
Location	2q31.1
Name	polysyndactyly 2
Other name(s)	syndactyly, type II
Corresponding gene	HOXD9 , HOXD10 , HOXD11 , HOXD12 , HOXD13 , EVX2
Other symbol(s)	SPD, SPD1
Main clinical features	contiguous gene syndrome syndactyly between third and fourth fingers and fourth and fifth toes, with variable digit duplication in the syndactylous web, associated metacarpal and metatarsal fusion by severely affected males may have hypospadias - polysyndactyly
Genetic determination	autosomal dominant
	other
Related entries	. including synpolydactyly type Vordingborg . syndactyly type V (OMIM 186300)
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	homeo box gene HOXD13 chromosomal deletion encompassing HOXD cluster, 117-Kb microdeletion removing HOXD9-HOXD13 and EVX2

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		unknown	disruption of DNA binding or of protein stability
repeat expansion		other	limited duplication of a polyalanine repeat or frameshifting deletions

Remark(s)

maybe more telomeric than SHFM5 G220V substitution does not produce a dominant-negative effect or a gain-of-function, but represents a dominant loss-of-function mutation revealing haploinsufficiency of HOXD13 (Fantini 2009)