Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

MKS1-Gene

Das Protein, welches durch das MKS1-Gen kodiert wird befindet sich in der Nähe des Kinetosomes (Basalkörper) und ist für die Ausbildung eines Primärziliums („nicht-motiles“ Zilium) verantwortlich. Mutationen führen zum autosomal rezessiven Bardet-Biedel-Syndrom 13 oder einem Meckel-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Bardet-Biedl-Syndrom 13
MKS1

Referenzen:

1.

Leitch CC et. al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

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2.

Kyttälä M et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

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3.

Dawe HR et. al. (2007) The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

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4.

Consugar MB et. al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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5.

Auber B et al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

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6.

Bialas NJ et al. (2009) Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

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7.

Tammachote R et. al. (2009) Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

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8.

Weatherbee SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

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9.

Williams CL et. al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

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10.

Salonen R et al. (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

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