Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
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We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and radiological findings of a mild skeletal dysplasia. The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. The skeletal dysplasia comprises platyspondyly with moderate short stature, osteopenia, and widened metaphyses. Patients have an increased ratio of total urinary pyridinolines, lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP), of approximately 1 as opposed to approximately 6 in EDS VI or approximately 0.2 in controls. Lysyl and prolyl residues of collagens were underhydroxylated despite normal lysyl hydroxylase and prolyl 4-hydroxylase activities; underhydroxylation was a generalized process as shown by mass spectrometry of the alpha1(I)- and alpha2(I)-chain-derived peptides of collagen type I and involved at least collagen types I and II. A genome-wide SNP scan and sequence analyses identified in all patients a homozygous c.483_491 del9 SLC39A13 mutation that encodes for a membrane-bound zinc transporter SLC39A13. We hypothesize that an increased Zn(2+) content inside the endoplasmic reticulum competes with Fe(2+), a cofactor that is necessary for hydroxylation of lysyl and prolyl residues, and thus explains the biochemical findings. These data suggest an entity that we have designated "spondylocheiro dysplastic form of EDS (SCD-EDS)" to indicate a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features.
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The laboratory measurement of urinary pyridinolines (LP and HP) by HPLC allows detection of an increased LP/HP ratio to approximately 1 (compared to normal ~0.2) in patients with mutations in SLC39A13.
“The laboratory measurement of urinary pyridinolines, lysyl-pyridinoline (LP) and hydroxylysyl-pyridinoline (HP) quantitated by HPLC allows the detection of an increased ratio LP/ HP to approximately 1, (compared to a normal values of approximately 0.2) in patients with mutations in SLC39A13 [Giunta et al., 2008].”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Giunta et al., 2008
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- Authors
- Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., & Steinmann, B.
- Affiliations
- University Children's Hospital Zurich (CH)
- Essen University Hospital (DE)
- Kantonsspital Aarau (CH)
- Innsbruck Medical University (AT)
- Duke Medical Center (US)
- University of Washington (US)
- University Hospital of Basel (CH)
- Corresponding author
- Steinmann, Beat
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-06
- Volume
- 82
- Issue
- 6
- Pages
- 1290-1305
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2427271
- OpenAlex
- W2007145608
- Cited by
- 218
- References
- 45
- Citations by year
- 2026: 6 · 2025: 14 · 2024: 9 · 2023: 5 · 2022: 11 · 2021: 8 · 2020: 11 · 2019: 20 · 2018: 12 · 2017: 16 · 2016: 12 · 2015: 10 · 2014: 17 · 2013: 14 · 2012: 15
- FWCI
- 7.24
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Dspace Repository (Marmara Üniversitesi) (submittedVersion, other-oa)
- Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Nr.3200B0-109370/1)
- National Institutes of Health (AR 36794, AR 37318)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Health Sciences › Nursing › Nutrition and Dietetics › Trace Elements in Health
- Keywords
- zinc transporters, autosomal recessive inheritance, consanguinity, collagen hydroxylation, lysyl hydroxylase, prolyl hydroxylase, type I collagen, type II collagen, skeletal dysplasia, platyspondyly, thenar atrophy, joint hypermobility
- MeSH terms
- Adult, Amino Acid Sequence, Amino Acids, Base Sequence, Child, Child, Preschool, Collagen, Consanguinity, DNA, Ehlers-Danlos Syndrome, Female, Genes, Recessive, Haplotypes, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Sequence Deletion, Sequence Homology, Amino Acid, Cation Transport Proteins
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