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GENATLAS PHENOTYPE

last update : 19/07/2006

Symbol	BPNH
Location	Xq28
Name	bilateral periventricular nodular heterotopia in females
Corresponding gene	FLNA
Other symbol(s)	NHBP, PVNH
Main clinical features	X-linked dominant . epilepsy ductus arteriosus and coagulopathy, also associated with cerebellar hypoplasia, mental retardation, lethal in boys
Genetic determination	sex linked
Related entries	including cerebro-fronto-facial syndrome (OMIM608578)
Function/system disorder	congenital malformation
	mental retardation
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Genotype/Phenotype correlations

periventricular nodular heterotopia caused by FLNA mutations in men has a wide clinical spectrum and is caused by different genetic mechanisms, including somatic mosaicism (from mild phenotypes, including unilateral PNH, to early deaths) . relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism, without a discernible skeletal phenotype(cerebro-fronto-facial syndrome), associated with a splice site mutation 1923C>T, resulting in the generation of both normal and aberrant mRNA