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GENATLAS PHENOTYPE

last update : 20-09-2012

Symbol	DEL11PP
Location	11p11.2
Name	Potocki-Shaffer syndrome
Other name(s)	proximal 11p deletion syndrome DEFECT11 syndrome deletion 11 contiguous gene syndrome
Corresponding gene	EXT2 , ALX4 , PHF21A
Other symbol(s)	P11pDS, del(11)(p11-p12), PSS, DEF11S
Main clinical features	main features : skull ossification defect (foramina parietalis permagna, FPP) and multiple exostoses (EXT) others : developmental delay, mental retardation, enlarged anterior fontanel, minor craniofacial anomalies, ophtalmologic anomalies and genital abnormalities in males
Genetic determination	chromosomal
Function/system disorder	multisystem/generalized
	osteo-articular
	mental retardation
Type	MCA/MR

Gene product

Name	contiguous gene syndrome with deletion of ALX4, EXT2, PHF21A and additional genes

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion	haploinsufficiency	interstitial proximal deletion of the short arm of chr11, variable size, encompassing ALX4, EXT2 and additional genes
	other		familial occurence was reported in 3 brothers whose the phenotypically normal mother has the deletion and a neocentric marker chromosome
	breakpoint	haploinsufficiency	disruption of PHF21A by translocations in the PSS region is associated with ID PMID: 22770980

Remark(s)

Genotype/Phenotype correlations

larger deletions extending proximally may associate obesity and/or cardiomyopathy, oe even WAGR complex ; several families with mentally normal patients are reported ; the ID and cranio-facial anomalies phenotypes are both caused by haploinsufficiency of a single gene, PHF21A PMID: 22770980 ;