Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom

Das Joubert-Syndrom ist eine klinisch und genetisch sehr heterogene Krankheitsgruppe. Die Vererbung ist meist autosomal rezessiv. Zu den typischen Kliischen zeichen gehören neurologische Störungen, die aus einer Hypoplasie der Vermis cerebelli resultieren und sich radologisch mit dem typischen 'molar tooth sign' zeigen. Unregelmäßiger finden sich eine Retinadystrophie und Nierenzysten.

Gliederung

Ziliopathie
COACH-Syndrom
Joubert-Syndrom
Joubert-Syndrom 3
AHI1
Joubert-Syndrom 6
TMEM67
Joubert-Syndrom 7
RPGRIP1L
Joubert-Syndrom 9
CC2D2A
Joubert-Syndroms 11
TTC21B
Joubert-Syndroms 19
ZNF423
SUFU
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
Senior-Loken-Syndrom

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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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24.

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

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25.

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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26.

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

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27.

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

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28.

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

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29.

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

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30.

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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