Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cytoplasmic dynein 2 heavy chain 1

The DYNC2H1 gene encodes a dynein protein involved in intraflagellar transport. Mutations cause autosomal recessive and digenic recessive Short-rib thoracic dysplasia with or without polydactyly type 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 03
DYNC2H1

References:

1.

Gibbons BH et. al. (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.

[^]
2.

Vaisberg EA et. al. (1996) Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.

[^]
3.

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

[^]
4.

Criswell PS et. al. (1996) A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.

[^]
5.

Kastury K et. al. (1997) Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.

[^]
6.

Criswell PS et. al. (1998) Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.

[^]
7.

Pazour GJ et. al. (2006) Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

[^]
8.

Merrill AE et. al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

[^]
9.

Dagoneau N et. al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

[^]
10.

Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

[^]
11.

Ocbina PJ et. al. (2011) Complex interactions between genes controlling trafficking in primary cilia.

[^]
12.

El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

[^]
13.

Schmidts M et. al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

[^]
14.

Schmidt H et. al. (2015) Structure of human cytoplasmic dynein-2 primed for its power stroke.

[^]
Update: Sept. 26, 2018