Associated disorders

The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).

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The percentage of clinical cases of congenital muscular dystrophy caused by pathogenic variants in the CHKB gene is unknown. However, 15 of 15 patients with congenital muscular dystrophy, mental retardation, and enlarged mitochondria were found to have pathogenic variants in the CHKB gene.

CHKB encodes choline kinase-beta, an enzyme that catalyzes the first step in the synthesis of phosphatidylcholine by adding a phophoryl group to choline. Absent choline kinase-beta activity in a spontaneous mouse mutant has been shown to cause a neonatal-onset muscular dystrophy with enlarged mitochondria, suggesting this enzyme is essential for normal muscle development and maintenance.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CHKB NM_005198.4