ArticleThe Journal of clinical endocrinology and metabolism2009
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 73 papers, 1 of them a synthesis that pooled it.
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Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 148 citations in OpenAlex.
- Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.The Libyan journal of medicine · 2013Pooled it
- Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.Hormone research in paediatrics · 2015Trial
- The PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes.Pharmacological reports : PR · 2026Article
- Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.Journal of pediatric endocrinology & metabolism : JPEM · 2026Article
- A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.Clinical case reports · 2025Article
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.Journal of diabetes investigation · 2024Article
- Evaluation and post-transplant management of children after multi-organ-with-kidney transplantation.Pediatric nephrology (Berlin, Germany) · 2024Review
- Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome.Journal of pediatric genetics · 2024Article
- Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes · 2024Article
- Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report.Pediatric reports · 2023Article
- Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.Diabetic medicine : a journal of the British Diabetic Association · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Growth and development in monogenic forms of neonatal diabetes.Current opinion in endocrinology, diabetes, and obesity · 2022Review
- Wolcott-Rallison syndrome: a case series of three patients.Pediatric endocrinology, diabetes, and metabolism · 2022Article
- Article
- Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.Acta diabetologica · 2021Article
- The first presentation of Wolcott-Rallison syndrome in a four-month-old infant with diabetic ketoacidosis (DKA) precipitating by COVID-19: A case report.Clinical case reports · 2021Article
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- Neonatal Diabetes Mellitus: Novel Mutations.Indian journal of pediatrics · 2021Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedTukkahrman, Doga [corrected to Turkkahraman, Doga]
Authors and funding
14 authors at 7 institutions in 4 countries.
Funding
Abstract
CONTEXT AND
objectiveMutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical management, genetic testing is generally performed after the full clinical picture develops. We aimed to identify patients with WRS before any other abnormalities apart from diabetes are present and study the overall frequency of WRS among patients with permanent neonatal diabetes. RESEARCH DESIGN AND
methodsThe coding regions of EIF2AK3 were sequenced in 34 probands with infancy-onset diabetes with a clinical phenotype suggestive of WRS (n = 28) or homozygosity at the WRS locus (n = 6).
resultsTwenty-five probands (73.5%) were homozygous or compound heterozygous for mutations in EIF2AK3. Twenty of the 26 mutations identified were novel. Whereas a diagnosis of WRS was suspected before genetic testing in 22 probands, three patients with apparently isolated diabetes were diagnosed after identifying a large homozygous region encompassing EIF2AK3. In contrast to nonconsanguineous pedigrees, mutations in EIF2AK3 are the most common known genetic cause of diabetes among patients born to consanguineous parents (24 vs. < 2%). Age at diabetes onset and birth weight might be used to prioritize genetic testing in the latter group.
conclusionsWRS is the most common cause of permanent neonatal diabetes mellitus in consanguineous pedigrees. In addition to testing patients with a definite clinical diagnosis, EIF2AK3 should be tested in patients with isolated neonatal diabetes diagnosed after 3 wk of age from known consanguineous families, isolated populations, or countries in which inbreeding is frequent.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.