Associated disorders

CHST14 is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (EDSMC1) (MedGen UID: 356497).

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CHST14-CDG (also known as musculocontractural type Ehlers-Danlos syndrome [EDSMC1]) is a rare disorder. The percentage of EDSMC1 cases that can be attributed to pathogenic variants in CHST14 is unknown.

The CHST14 gene encodes the dermatan 4-O-sulfotransferase-1 (D4ST1) enzyme. D4ST1 catalyzes the 4-O-sulfation of N-acetylgalactosamine, a process which is important in the synthesis of the proteoglycan, dermatan sulfate.

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
CHST14 NM_130468.3