Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 20/08/07

Symbol	JBTS7
Location	16q12.2
Name	Joubert syndrome 7
Other name(s)	cerebello-oculo-renal syndrome 3 Joubert syndrome type B
Corresponding gene	RPGRIP1L
Other symbol(s)	CORS3
Main clinical features	characterized by agenesis or dysgenesis of the cerebellar vermis, hypotonia, ataxia, mental retardation and either abnormal eye movements or episodic hyperpnea or both, axial magnetic resonance imaging of the upper brain stem shows a characteristic "molar tooth" appearance due to an abnormally deep posterior interpeduncular fossa, prominent or thickened superior cerebellar pedoncules, and hypoplasia and clefting of primarily the superior vermis nephronophtisis or rarelyenlarged cystic kidneys
Genetic determination	autosomal recessive
Function/system disorder	eye
	kidney and urinary tract
	neurology
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types			missense mutations diminishes the interaction between RPGRIP1L and nephrocystin-4

Remark(s)

RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)