Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cytoplasmic dynein 2 light intermediate chain 1

The DYNC2LI1 gene encodes a microtubular motor protein trat is involved in retrograde transport in primary cilia. Mutations cause autosomal recessive Short-rib thoracic dysplasia with or without polydactyly 15.


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

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 15



Grissom PM et. al. (2002) Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.


Mikami A et. al. (2002) Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.


Perrone CA et. al. (2003) A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells.


Taylor SP et. al. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.


Kessler K et. al. (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Update: Sept. 26, 2018