CHST14 Genetic Analysis

CHST14(CTGT#1127)

Whole blood lavender EDTA

3 mL

Room temperature

1 to 2 weeks

Provided with patient report in CPRS.

Ehlers-Danlos syndrome, musculocontractural type (MIM 601776) is an autosomal recessive variant of Ehlers-Danlos syndrome (EDS) caused by mutations in the carbohydrate sulfotransferase 14 gene (CHST14). The musculocontractural type of Ehlers-Danlos syndrome was formerly known as EDS, type VIB, the kyphoscoliotic type of EDS (with normal lysyl hydroxylase activity) or adducted thumb-clubfoot syndrome. In addition to progressive kyphoscoliosis, patients with the musculocontractural type of Ehlers-Danlos syndrome have several characteristic findings including a severely wasted build, adducted thumbs in infancy, clubfoot, arachnodactyly, joint hypermobility, hyperextensible and fragile skin with atrophic scars, and delayed wound healing. Many patients have dysmorphic facial features that may include hypertelorism, brachycephaly, retrognathia, a broad and flat forehead, thin upper lip, downslanting palpebral fissures, low set ears and facial asymmetry with protruding jaw in older children. Numerous instances of gross motor developmental delay and recurrent large hematomas have been noted. CHST14 encodes dermatan-4-sulfotransferase 1, an enzyme involved in the biosynthesis of dermatan sulfate. Dermatan sulfate is a component of dermatan sulfate proteoglycans, molecules with a wide tissue distribution. Functions ascribed to dermatan sulfate proteoglycans via binding to various other molecules include organization of the extracellular matrix, anticoagulation, cell adhesion, migration and proliferation.