Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Open accessAbstract
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder involving skin and joint laxity and tissue fragility. A new type of EDS, similar to kyphoscoliosis type but without lysyl hydroxylase deficiency, has been investigated. We have identified a homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases. CHST14 encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3'-phosphoadenosine 5'-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS). Transfection experiments of mutants and enzyme assays using fibroblast lysates of patients showed the loss of D4ST1 activity. CHST14 mutations altered the glycosaminoglycan (GAG) components in patients' fibroblasts. Interestingly, DS of decorin proteoglycan, a key regulator of collagen fibril 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 preclude proper collagen bundle formation or maintenance of collagen bundles while the sizes and shapes of collagen fibrils are unchanged as observed in the patients' dermal tissues. These findings indicate the important role of decorin DS in the extracellular matrix and a novel pathomechanism in EDS.
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Miyake et al. [2010] identified CHST14 as the causal gene for EDS Kosho type through homozygosity mapping using two consanguineous families.
“Miyake et al. [2010] identified CHST14 as the causal gene for this condition through homozygosity mapping using the two consanguineous families.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
GAG chains of decorin from affected skin fibroblasts contained exclusively CS and no DS disaccharides, while controls contained mainly DS disaccharides (approximately 95%).
“GAG chains of decorin from the affected skin fibroblasts contained exclusively CS and no DS disaccharides, while those from the controls contained mainly DS disaccharides (approximately 95%)”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
Transmission electron microscopy showed collagen fibrils in affected skin specimens were dispersed in the reticular dermis, in contrast to regularly and tightly assembled collagen fibrils in controls; each affected fibril was smooth and round, not varying in size and shape, similar to controls.
“Transmission electron microscopy showed that collagen fibrils in the affected skin specimens were dispersed in the reticular dermis in contrast to the regularly and tightly assembled collagen fibrils observed in the controls and that each collagen fibril in affected skin specimens was smooth and round, not varying in size and shape, similar to that in the controls”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
Light microscopy of affected skin specimens showed fine collagen fibers predominantly in the reticular to papillary dermis with marked reduction of normally thick collagen bundles.
“Light microscopy of the affected skin specimens using hematoxylin and eosin staining showed that fine collagen fibers were predominantly present in the reticular to papillary dermis with marked reduction of normally thick collagen bundles”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
Disaccharide composition analysis of CS/DS chains from affected skin fibroblasts showed negligible DS and excess CS, suggested to result from impaired 4-O-sulfation lock due to D4ST1 deficiency followed by backepimerization from IdoA to GlcA.
“Disaccharide composition analysis of CS/DS chains isolated from the affected skin fibroblasts in these two patients showed a negligible amount of DS and excess amount of CS, which was suggested to result from impaired 4-O-sulfation lock due to D4ST1 deficiency, followed by backepimerization from IdoA to GlcA”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
Sulfotransferase activity toward DS in mutant skin fibroblasts was significantly decreased to 6.7% in a patient with compound heterozygous p.(Pro281Leu)/p.(TyrY293Cys) and to 14.5% in a patient with homozygous p.(Pro281Leu), compared with controls.
“Sulfotransferase activity toward DS in mutant skin fibroblasts was significantly decreased to 6.7% in a patient with the compound heterozygous mutation p.(Pro281Leu)/p.(TyrY293Cys) and to 14.5% in a patient with the homozygous mutation p.(Pro281Leu), compared with each age-and sex-matched control”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
Sulfotransferase activity of cos-7 cells transfected with CHST14 containing p.(LysK69*), p.(Pro281Leu), p.(Cys289Ser), or p.(Tyr293Cys) mutations was decreased at almost the same level, suggesting that loss-of-function mutations in CHST14 are the basis of this disorder.
“The sulfotransferase activity of cos-7 cells transfected with CHST14 containing p.(LysK69 Ã ), p.(Pro281Leu), p.(Cys289Ser), or p.(Tyr293Cys) mutations was decreased at almost the same level, suggesting that loss-of-function mutations in CHST14 (i.e., D4ST1 deficiency) are the basis of this disorder”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Miyake et al., 2010
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A novel homozygous mutation of DARS2 may cause a severe LBSL variant
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Self-citation
- Authors
- Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., Takahashi, J., Kato, H., Yasui, H., Ishida, T., Ohashi, H., Nishimura, G., Shiina, M., Saitsu, H., Tsurusaki, Y., Doi, H., Fukushima, Y., Ikegawa, S., Yamada, S., Sugahara, K., & Matsumoto, N.
- Affiliations
- Yokohama City University (JP)
- Shinshu University (JP)
- Hokkaido University (JP)
- RIKEN (JP)
- Dokkyo Medical University (JP)
- Saitama Medical University (JP)
- Sapporo Medical University (JP)
- Saitama Children's Medical Center (JP)
- Tokyo Metropolitan Kiyose Children's Hospital (JP)
- Corresponding author
- Miyake, Noriko
- Matsumoto, Naomichi
- ORCID
- Miyake, Noriko
- Kosho, Tomoki
- Mizumoto, Shuji
- Furuichi, Tatsuya
- Nagashima, Yoji
- Arai, Eiichi
- Takahashi, Kazuo
- Takahashi, Jun
- Kato, Hiroyuki
- Yasui, Hiroshi
- Ishida, Tadao
- Ohashi, Hirofumi
- Nishimura, Gen
- Shiina, Masaaki
- Saitsu, Hirotomo
- Tsurusaki, Yoshinori
- Doi, Hiroshi
- Fukushima, Yoshimitsu
- Ikegawa, Shiro
- Yamada, Shuhei
- Sugahara, Kazuyuki
- Matsumoto, Naomichi
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2010-06-29
- Volume
- 31
- Issue
- 8
- Pages
- 966-974
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2097224637
- Cited by
- 156
- References
- 35
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 5 · 2023: 7 · 2022: 10 · 2021: 10 · 2020: 10 · 2019: 10 · 2018: 10 · 2017: 9 · 2016: 7 · 2015: 10 · 2014: 13 · 2013: 12 · 2012: 16
- FWCI
- 8.07
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology (20390019)
- Dokkyo Medical University
- Ministry of Health, Labour and Welfare
- Hayashi Memorial Foundation for Female Natural Scientists
- Tokyo Medical and Dental University
- Japan Society for the Promotion of Science (22790917)
- Japan Science and Technology Agency
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- Ehlers-Danlos syndrome, loss-of-function mutations, compound heterozygosity, decorin, dermatan sulfate, chondroitin sulfate, glycosaminoglycans, collagen fibril assembly, extracellular matrix, connective tissue diseases
- MeSH terms
- Carbohydrate Sulfotransferases, Adult, Amino Acid Sequence, Child, Collagen, Ehlers-Danlos Syndrome, Female, Fibroblasts, Glycosaminoglycans, Humans, Male, Models, Biological, Molecular Sequence Data, Mutation, Pedigree, Proteoglycans, Sulfotransferases, Signal Transduction, Transforming Growth Factor beta, Extracellular Matrix Proteins, Dermis, Decorin
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