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Ehlers-Danlos syndrome

 

OMIM

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. Collagen in connective tissue helps tissues to resist deformation. Collagen plays a very significant role in the skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen leads to increased elasticity within these structures. Depending on the individual, the severity of the mutation can vary from mild to life-threatening.

The Ehlers-Danlos syndromes (EDS) share common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement.

CHST14 mutations alter glycosaminoglycan (GAG) components in patients’ fibroblasts. Interestingly,  decorin DS proteoglycan, a key regulator of collagen assembly, was completely lost and replaced by chondroitin sulfate (CS) in the patients' fibroblasts, leading to decreased flexibility of GAG chains. The loss of the decorin  DS proteoglycan due to CHST14 mutations may prevent proper collagen bundle formation or maintenance of collagen bundles.

We provide sequencing for Ehlers-Danlos Musculocontractural Type which is associated with mutations of the CHST14 gene, chromosome locus 15q15.1.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 code Q79.6

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $620.00

Turn-around-time: 3-4 weeks

Specimen Requirements

Shipping Information

References

1. Malfait, F., Syx, D., Vlummens, P., Symoens, S., Nampoothiri, S., Hermanns-Le, T., Van Laer, L., De Paepe, A. (2010) "Musculocontractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene". Hum. Mutat. 31: 1233-1239.


2. Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, R. J.
(1998) "Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997". Am. J. Med. Genet. 77: 31-37.

3. Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y,et al. (2010) “ Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome”. Hum Mutat. 31(8):966-74.



 

 

 


Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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