A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of

Authors

Guoling Tian
Ana G Cristancho
Holly A Dubbs
Grant T Liu
Nicholas J Cowan
Ethan M Goldberg

Publication/Presentation Date

11-1-2016

Abstract

BACKGROUND: Microtubules are dynamic polymers of

METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup. We include studies of mutant function in

RESULTS: The patient was found to have a novel de novo mutation in kinesin family member 2A (

CONCLUSION: Findings support the pathogenic link between

Volume

4

Issue

6

First Page

599

Last Page

603

ISSN

2324-9269

Published In/Presented At

Tian, G., Cristancho, A. G., Dubbs, H. A., Liu, G. T., Cowan, N. J., & Goldberg, E. M. (2016). A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. Molecular genetics & genomic medicine, 4(6), 599–603. https://doi.org/10.1002/mgg3.236

Disciplines

Medicine and Health Sciences | Pediatrics

PubMedID

27896282

Department(s)

Department of Pediatrics

Document Type

Article