Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Dynein schwere Kette 5

Das DNAH5-Gen kodiert eine Motorprotein welches für am ziliären transport beteiligt ist. Mutationen führen zur autosomal rezessiven ziliäre Dyskinesie 3, welche mit oder ohne Situs inversus auftreten kann.

Diagnostik:

Clinic 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:

Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
DNAH5

Referenzen:

1.

Vaughan KT et. al. (1996) Multiple mouse chromosomal loci for dynein-based motility.

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2.

Chapelin C et. al. (1997) Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.

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3.

Omran H et. al. (2000) Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

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4.

Olbrich H et. al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

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5.

Ibañez-Tallon I et. al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

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6.

Ibañez-Tallon I et. al. (2003) To beat or not to beat: roles of cilia in development and disease.

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7.

Ibañez-Tallon I et. al. (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.

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8.

Tan SY et. al. (2007) Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

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9.

Failly M et. al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

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10.

Knowles MR et. al. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

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