Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus

Die primäre ziliäre Dyskinesie 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen des DNAH5-Gens hervorgerufen wird.

Gliederung

Ziliopathie
COACH-Syndrom
Joubert-Syndrom
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
DNAH5
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
Senior-Loken-Syndrom

Referenzen:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

None (1976) A human syndrome caused by immotile cilia.

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8.

El Zein L et. al. (2003) Lateralization defects and ciliary dyskinesia: lessons from algae.

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