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GENATLAS PHENOTYPE

last update : 14/05/08

Symbol	DUP12Q24
Location	12q24.13
Name	chromosome 12q24.1q24.2 duplication
Other name(s)	partial trisomy 12q24.1q24.2
Corresponding gene	PTPN11
Main clinical features	overlapping with Noonan syndrome, significant developmental delay, microcephaly, hip abnormalities and structural brain anomalies
Genetic determination	chromosomal
Related entries	NS1
Function/system disorder
Type	MCA/MR

Gene product

Name	SHP-2, a tyrosine-protein phosphatase regulating the RAS/MAPK signaling pathway

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	duplication	over-expression	in 1 patient, 10Mb in size including the PTPN11 gene

Remark(s)

the increased gene-dosage of the PTPN11 gene is expected to have the same consequences as gain-of-function mutation seen in Noonan syndrome