CoChat
Sign Up
Cited by 218Connective tissue disorders researchDermatological and Skeletal DisordersTrace Elements in Health

The DOI matches its Crossref record; 44 of the 45 references it cites were found in a registry or an index.

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Open access
Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat·2008·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2008.05.001PMC PMC2427271
Open this paper in CoChat — free accountOpen PDF

Abstract

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.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2008.05.001

Cites

44 of 44 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 45 references

Research works printed but not linked: 2

  1. Neyzi, 1978, Growth centile charts from Turkish children (Türk çocuklarýnýn persentil büyüme eðrileri). Ist, Tip Fak. Mecm., 41
  2. Prader, 1988, Physical growth of Swiss children from birth to 20 years of age, Helv. Paediatr. Acta, 43, 1

Cited by

Sorted by citations

Related

See all

Metadata

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
ORCID
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)
DOI
10.1016/j.ajhg.2008.05.001
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
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review