Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Mol Genet Genomic Med
; 8(5): e1197, 2020 05.
Article
in En
| MEDLINE
| ID: mdl-32130795
ABSTRACT
BACKGROUND:
Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Forty-one patients with mcEDS-CHST14 and three patients with mcEDS-DSE have been described in the literature.METHODS:
Clinical, molecular, and glycobiological findings in three additional patients with mcEDS-DSE were investigated.RESULTS:
Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria-like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in DSE were found c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS.CONCLUSION:
McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Sulfotransferases
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Ehlers-Danlos Syndrome
/
Loss of Function Mutation
Limits:
Adolescent
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Adult
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Female
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Humans
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Male
Language:
En
Journal:
Mol Genet Genomic Med
Year:
2020
Document type:
Article
Affiliation country: