Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family

Zhao, Na; Yang, Yanling; Li, Ping; Xiong, Qiuhong; Han, Xiao; Wu, Changxin

doi:10.3389/fped.2021.679646

Cited by 4 publications

(1 citation statement)

References 14 publications

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“…The study cohort comprises 159 individuals identified through a systematic literature search from 62 studies 4,5,7,17–75 (Figure 1) and an additional 30 individuals who were collected via contacting physicians and study authors (Supplemental Table S1). Additional follow‐up data were acquired on 11 individuals already reported 7,24–26,28,45 via direct contact with the original study authors.…”

Section: Resultsmentioning

confidence: 99%

Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

Aldrian,

Bochdansky,

Kavallar

et al. 2024

Liver International

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Background and AimsTo systematically review the literature for reports on Wolcott‐Rallison syndrome, focusing on the spectrum and natural history, genotype‐phenotype correlations, patient and native liver survival, and long‐term outcomes.MethodsPubMed, Livio, Google Scholar, Scopus and Web of Science databases were searched. Data on genotype, phenotype, therapy, cause of death and follow‐up were extracted. Survival and correlation analyses were performed.ResultsSixty‐two studies with 159 patients met the inclusion criteria and additional 30 WRS individuals were collected by personal contact. The median age of presentation was 2.5 months (IQR 2) and of death was 36 months (IQR 50.75). The most frequent clinical feature was neonatal diabetes in all patients, followed by liver impairment in 73%, impaired growth in 72%, skeletal abnormalities in 59.8%, the nervous system in 37.6%, the kidney in 35.4%, insufficient haematopoiesis in 34.4%, hypothyroidism in 14.8% and exocrine pancreas insufficiency in 10.6%. Episodes of acute liver failure were frequently reported. Liver transplantation was performed in six, combined liver‐pancreas in one and combined liver‐pancreas‐kidney transplantation in two individuals. Patient survival was significantly better in the transplant cohort (p = .0057). One‐, five‐ and ten‐year patient survival rates were 89.4%, 65.5% and 53.1%, respectively. Liver failure was reported as the leading cause of death in 17.9% of cases. Overall survival was better in individuals with missense mutations (p = .013).ConclusionWolcott‐Rallison syndrome has variable clinical courses. Overall survival is better in individuals with missense mutations. Liver‐ or multi‐organ transplantation is a feasible treatment option to improve survival.

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Section: Resultsmentioning

confidence: 99%

Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

Aldrian,

Bochdansky,

Kavallar

et al. 2024

Liver International

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The first presentation of Wolcott‐Rallison syndrome in a four‐month‐old infant with diabetic ketoacidosis (DKA) precipitating by COVID‐19: A case report

Maleki

Baniasad

et al. 2021

Clinical Case Reports

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Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes

Mianesaz,

Ghalamkari,

Abbasi

et al. 2024

J of Diabetes Invest

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IntroductionNeonatal diabetes mellitus (NDM) is a rare non‐immunological monogenic disorder characterized by hyperglycemic conditions primarily occurring within the first 6 months of life. The majority of cases are attributed to pathogenic variants in genes affecting beta‐cell survival, insulin regulation, and secretion. This study aims to investigate the genetic landscape of NDM in Iran.MethodsWe recruited a total of 135 patients who were initially diagnosed with diabetes at <12 months of age in Iran and referred to pediatric endocrinology clinics across the country. These patients underwent genetic diagnostic tests conducted by the Exeter Molecular Genetics Laboratory in the UK. The pathogenic variants identified were sorted and described based on type, pathogenicity (according to ACMG/AMP criteria), novelty, and the affected protein domain.ResultsGenetic defects were identified in 93 probands, presenting various pathogenic abnormalities associated with NDM and its associated syndromes. 76% of the patients were born as a result of consanguineous marriage, and a familial history of diabetes was found in 43% of the cases. A total of 58 distinct variants in 14 different genes were discovered, including 20 variants reported for the first time. Causative variants were most frequently identified in EIF2AK3, KCNJ11, and ABCC8, respectively. Notably, EIF2AK3 and ABCC8 exhibited the highest number of novel variants.DiscussionThese findings provide valuable insights into the genetic landscape of NDM in the Iranian population and contribute to the knowledge of novel pathogenic variants within known causative genes.

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Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family

Cited by 4 publications

References 14 publications

Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

The first presentation of Wolcott‐Rallison syndrome in a four‐month‐old infant with diabetic ketoacidosis (DKA) precipitating by COVID‐19: A case report

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes

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