ArticleOrphanet journal of rare diseases2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.Clinical epigenetics · 2025Article
- Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.Clinical epigenetics · 2025Article
- Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.BMC pediatrics · 2025Article
- Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.Clinical epigenetics · 2025Article
- Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.The Journal of clinical endocrinology and metabolism · 2025Article
- Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.Clinical genetics · 2025Article
- A long way to syndromic short stature.Italian journal of pediatrics · 2024Article
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including theFrontiers in genetics · 2024Article
- Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.Frontiers in endocrinology · 2024Article
- Article
- Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.Endocrine connections · 2022Review
- Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.Molecular cytogenetics · 2022Article
- Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Molecular diagnosis & therapy · 2022Article
- Genomics in Egypt: Current Status and Future Aspects.Frontiers in genetics · 2022Review
- Case report: A novelFrontiers in pediatrics · 2022Article
- Review
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Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSilver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad spectrum of molecular changes with hypomethylation in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat) as the most frequent findings. Monogenetic causes are rare, but a clinical overlap with numerous other disorders has been reported. However, a comprehensive overview on the contribution of mutations in differential diagnostic genes to phenotypes reminiscent to SRS is missing due to the lack of appropriate tests. With the implementation of next generation sequencing (NGS) tools this limitation can now be circumvented. MAIN BODY: We analysed 75 patients referred for molecular testing for SRS by a NGS-based multigene panel, whole exome sequencing (WES), and trio-based WES. In 21/75 patients a disease-causing variant could be identified among them variants in known SRS genes (IGF2, PLAG1, HMGA2). Several patients carried variants in genes which have not yet been considered as differential diagnoses of SRS.
conclusionsWES approaches significantly increase the diagnostic yield in patients referred for SRS testing. Several of the identified monogenetic disorders have a major impact on clinical management and genetic counseling.
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