Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome

Joubert syndrome is a clinically and genetically quite heterogeneous disorder. Inheritance is mostly autosomal recessive. The typical clinical signs include neurological symptoms that result from hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign' and to a variable degree retinal dystrophy and renal cysts.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Joubert syndrome 01
INPP5E
Joubert syndrome 02
TMEM216
Joubert syndrome 03
AHI1
Joubert syndrome 04
NPHP1
Joubert syndrome 05
CEP290
Joubert syndrome 06
TMEM67
Joubert syndrome 07
RPGRIP1L
Joubert syndrome 08
ARL13B
Joubert syndrome 09
CC2D2A
Joubert syndrome 10
OFD1
Joubert syndrome 11
TTC21B
Joubert syndrome 12
KIF7
Joubert syndrome 13
TCTN1
Joubert syndrome 14
TMEM237
Joubert syndrome 15
CEP41
Joubert syndrome 16
TMEM138
Joubert syndrome 17
CPLANE1
Joubert syndrome 18
TCTN3
Joubert syndrome 19
ZNF423
Joubert syndrome 20
TMEM231
Joubert syndrome 21
CSPP1
Joubert syndrome 22
PDE6D
Joubert syndrome 23
KIAA0586
Joubert syndrome 24
TCTN2
Joubert syndrome 25
CEP104
Joubert syndrome 26
KIAA0556
Joubert syndrome 27
B9D1
Joubert syndrome 28
MKS1
Joubert syndrome 29
TMEM107
Joubert syndrome 30
ARMC9
Joubert syndrome 31
CEP120
Joubert syndrome 32
SUFU
Joubert syndrome 33
PIBF1
Joubert syndrome 34
B9D2
Joubert syndrome 35
ARL3
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

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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3.

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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4.

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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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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20.

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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26.

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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27.

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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29.

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

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30.

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

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31.

Orphanet article

Orphanet ID 475 [^]
32.

Wikipedia article

Wikipedia EN (Joubert_syndrome) [^]
Update: April 29, 2019