Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Abstract

We here report on a 20-year-old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST-1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS.

• Authors: N C Voermans, M Kempers, M Lammens, N van Alfen, M C Janssen, C Bönnemann, B G van Engelen, B C Hamel
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 4 Pg. 850-5 (Apr 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 22407744 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Chemical References

• Sulfotransferases
• dermatan-4-sulfotransferase-1

Topics

• Ehlers-Danlos Syndrome (genetics, pathology)
• Female
• Humans
• Muscle Weakness (genetics)
• Polymorphism, Single Nucleotide
• Sequence Deletion
• Sulfotransferases (deficiency, genetics)
• Young Adult