On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

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Changes in the CHKB gene were identified in a female, age 28 with Landau-Kleffner syndrome and progressive lower limb weakness (read full description). 

Date of Report

Aug 25, 2021

Full Name

choline kinase beta

Chromosome 22 (22q13.33)


The CHKB gene codes for a protein that has a key role in phospholipid creation (Aoyama et al. 2004).

Database Links

GeneCards: CHKB

NCBI Gene: 1120

OMIM: 612395

UniProtKB/Swiss-Prot: Q9Y259

Clinical Significance

Changes in this gene were identified in a UDN participant.

Inheritance Pattern Autosomal recessive
Position (hg19) chr22:g.51020982C>G & g.51021060G>A
Transcript NM_005198.4
DNA Change c.224+5G>C & c.151C>T
Protein Change N/A & p.Gln51Ter
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