Article
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.
PLoS genetics - 1 Nov 2018
Konjikusic Mia J, Yeetong Patra, Boswell Curtis W, Lee Chanjae, Roberson Elle C, Ittiwut Rungnapa, Suphapeetiporn Kanya, Ciruna Brian, Gurnett Christina A, Wallingford John B, Shotelersuk Vorasuk, Gray Ryan S
Abstract excerpt
Cerebrospinal fluid flow is crucial for neurodevelopment and homeostasis of the ventricular system of the brain, with localized flow being established by the polarized beating of the ependymal cell (EC) cilia. Here, we report a homozygous one base-pair deletion, c.1193delT (p.Leu398Glnfs*2), in the Kinesin Family Member 6 (KIF6) gene in a child displaying neurodevelopmental defects and intellectual disability. To...
Topics
- Amino Acid Sequence
- Animals
- Animals, Genetically Modified
- Base Sequence
- Child
- Cilia
- Consanguinity
- Ependyma
- Female
- Gene Expression