The DOI matches its Crossref record.
11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
Abstract
Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5–10% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS. Objective: The aim was to screen for 11p15 epimutation and mUPD7 in RSS and non-RSS small-for-gestational-age (SGA) patients and identify epigenetic-phenotypic correlations. Studied Population and Methods: A total of 127 SGA patients were analyzed. Clinical diagnosis of RSS was established when the criterion of being SGA was associated with at least three of five criteria: postnatal growth retardation, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties. Serum IGF-II was evaluated for 82 patients. Results: Of the 127 SGA patients, 58 were diagnosed with RSS; 37 of these (63.8%) displayed partial LOM of the 11p15 ICR1 domain, and three (5.2%) had mUPD7. No molecular abnormalities were found in the non-RSS SGA group (n = 69). Birth weight, birth length, and postnatal body mass index (BMI) were lower in the abnormal 11p15 RSS group (ab-ICR1-RSS) than in the normal 11p15 RSS group [−3.4 vs.−2.6 sd score (SDS), −4.4 vs.−3.4 SDS, and −2.5 vs.−1.6 SDS, respectively; P < 0.05]. Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. All ab-ICR1-RSS patients had at least four of five criteria of the scoring system. Postnatal IGF-II levels were within normal values. Conclusion: The 11p15 ICR1 epimutation is a major, specific cause of RSS exhibiting failure to thrive. We propose a clinical scoring system (including a BMI < −2 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of RSS.
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.
Integrity signals
Registry
Cites
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.
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
Cited by
Oxidative DNA damage impairs global sperm DNA methylation in infertile men
Tunc, O., & Tremellen, K. (2009) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-009-9346-2 · Cited by 248
Metadata
- Authors
- Netchine, I., Rossignol, S., Dufourg, M.-N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Raux Demay, M.-C., Danton, F., Petriczko, E., Bertrand, A.-M., Heinrichs, C., Carel, J.-C., Loeuille, G.-A., Pinto, G., Jacquemont, M.-L., Gicquel, C., Cabrol, S., & Le Bouc, Y.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2007-08-01
- Volume
- 92
- Issue
- 8
- Pages
- 3148-3154
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2015180872
- Cited by
- 320
- References
- 0
- FWCI
- 10.89
- Type
- journal article
- Language
- en
- Open access
- closed
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: 11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations. https://app.cochat.ai/papers/10.1210/jc.2007-0354
- The paper
- Netchine, I., Rossignol, S., Dufourg, M.-N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Raux Demay, M.-C., Danton, F., Petriczko, E., Bertrand, A.-M., Heinrichs, C., Carel, J.-C., Loeuille, G.-A., Pinto, G., Jacquemont, M.-L., . . . Le Bouc, Y. (2007). 11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations. The Journal of Clinical Endocrinology & Metabolism. https://doi.org/10.1210/jc.2007-0354
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
