Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dynein heavy chain 5

The DNAH5 gene encodes a motor protein which is involved in ciliary transport. Mutations cause autosomal recessive ciliary dyskinesia 3 with or without situs inversus.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Primary ciliary dyskinesia 3 with or without situs inversus
DNAH5

References:

1.

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

[^]
2.

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.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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.

[^]
9.

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

[^]
10.

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

[^]
11.

Orphanet article

Orphanet ID 121137 [^]
12.

NCBI article

NCBI 1767 [^]
13.

OMIM.ORG article

Omim 603335 [^]
14.

Wikipedia article

Wikipedia EN (DNAH5) [^]
Update: April 29, 2019