Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 01

Joubert syndrome 1 is an autosomal recessive disorder caused by mutations of the INPP5E gene.

Systematic

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INPP5E
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References:

1.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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2.

Bielas SL et al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

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Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

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Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

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Friede RL et al. (1978) Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.

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Saraiva JM et al. (1992) Joubert syndrome: a review.

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van Dorp DB et al. (1991) Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

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Cantani A et al. (1990) Joubert syndrome. Review of the fifty-three cases so far published.

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Kendall B et al. (1990) Joubert syndrome: a clinico-radiological study.

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Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

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Haumont D et al. (1983) The Mohr syndrome: are there two variants?

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Egger J et al. (1984) Mohr syndrome variant or Joubert-Boltshauser syndrome?

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Laverda AM et al. (1984) Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

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Boltshauser E et al. (1981) Joubert syndrome: clinical and polygraphic observations in a further case.

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Lindhout D et al. (1980) The Joubert syndrome associated with bilateral chorioretinal coloboma.

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16.

Pellegrino JE et al. (1997) Clinical and molecular analysis in Joubert syndrome.

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17.

Sztriha L et al. (1999) Joubert's syndrome: new cases and review of clinicopathologic correlation.

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18.

Maria BL et al. (1999) Clinical features and revised diagnostic criteria in Joubert syndrome.

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19.

Fennell EB et al. (1999) Cognition, behavior, and development in Joubert syndrome.

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Raynes HR et al. (1999) Joubert syndrome: monozygotic twins with discordant phenotypes.

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21.

Yachnis AT et al. (1999) Neuropathology of Joubert syndrome.

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22.

Saar K et al. (1999) Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

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23.

Natacci F et al. (2000) Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

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24.

Blair IP et al. (2002) Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

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25.

Valente EM et al. (2003) Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

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Keeler LC et al. (2003) Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

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Gould DB et al. (2004) Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.

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28.

Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

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Braddock SR et al. (2007) The face of Joubert syndrome: a study of dysmorphology and anthropometry.

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Spampinato MV et al. (2008) Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.

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OMIM.ORG article

Omim 213300 [^]
Update: April 29, 2019