Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 9

Der Typ 9 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CC2D2A hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 3
Joubert-Syndrom 6
Joubert-Syndrom 7
Joubert-Syndrom 9
CC2D2A
Joubert-Syndroms 11
Joubert-Syndroms 19

Referenzen:

1.

Noor A et. al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

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2.

Gorden NT et. al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

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3.

Lee JE et. al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

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4.

Bachmann-Gagescu R et. al. (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

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