Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Transmembranöses Protein 67

Das Gen TMEM67 kodiert ein ciliäres Protein was für die Wanderung des Ciliums zur apikalen Membran verantwortlich ist. Mutationen in diesem Gen sind für verschiedene autosomal rezessive Krankheitszustände verantwortlich: Nephronophthise 11, Joubert-Syndrom 6, COACH-Syndrom und Meckel-Syndrom 3. Beim Bardet-Biedl-Syndroms 1 können Mutationen in diesem Gen den Phenotyp beeinflussen.

Diagnostik:

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

Krankheiten:

Nephronophthise 11
TMEM67
Joubert-Syndrom 6
TMEM67
Meckel-Syndrom 3
TMEM67
Bardet-Biedl-Syndrom 1
ARL6
BBS1
CCDC28B
TMEM67
COACH-Syndrom
CC2D2A
RPGRIP1L
TMEM67

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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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6.

Verloes A et. al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

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7.

Gentile M et. al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.

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8.

Smith UM et. al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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9.

Romano S et. al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

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10.

Baala L et. al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

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11.

Otto EA et. al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

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12.

Doherty D et. al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

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13.

Dafinger C et. al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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14.

Garcia-Gonzalo FR et. al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

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15.

Adams M et. al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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16.

Abdelhamed ZA et. al. (2013) Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

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