ArticleAmerican journal of human genetics2007
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02882477 (Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy), which is not on this map. Cited by 144 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy
Who cites it
144 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.International journal of environmental research and public health · 2022Pooled it
- WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.Endocrine · 2010Pooled it
- Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome.IBRO neuroscience reports · 2026Article
- Exploratory Associations Between Multimodal MRI-Derived Features and Neurological Symptoms in Wolfram Syndrome: A Spanish Cohort Pilot Study.Diagnostics (Basel, Switzerland) · 2026Article
- Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.medRxiv : the preprint server for health sciences · 2026Article
- CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.Acta neuropathologica communications · 2025Article
- Cisd1 synergizes with Cisd2 to modulate protein processing by maintaining mitochondrial and ER homeostasis.Aging · 2025Article
- Reciprocal rescue of Wolfram syndrome by two causative genes.EMBO reports · 2025Article
- Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity.International journal of molecular sciences · 2025Review
- SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.Journal of endocrinological investigation · 2025Review
- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Associations Between Diabetes Mellitus and Neurodegenerative Diseases.International journal of molecular sciences · 2025Review
- Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.Frontiers in medicine · 2025Article
- A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report.Clinical case reports · 2025Article
- Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.Frontiers in neurology · 2025Article
- The Labile Side of Iron in Health and Disease: A Narrative Review.Advances in experimental medicine and biology · 2025Review
- Loss of Cisd2 Exacerbates the Progression of Age-Related Hearing Loss.Aging and disease · 2024Article
- ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome.Nature communications · 2024Article
- Mitochondrial CISD1/Cisd accumulation blocks mitophagy and genetic or pharmacological inhibition rescues neurodegenerative phenotypes in Pink1/parkin models.Molecular neurodegeneration · 2024Article
- Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.Archives of endocrinology and metabolism · 2024Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25. A G-->C transversion at nucleotide 109 predicts an amino acid change from glutamic acid to glutamine (E37Q). Although the amino acid is conserved and the mutation is nonsynonymous, the pathogenesis for the disorder is because the mutation also causes aberrant splicing. The mutation was found to disrupt messenger RNA splicing by eliminating exon 2, and it results in the introduction of a premature stop codon. Mutations in WFS1 have also been found to cause low-frequency nonsyndromic hearing loss, progressive hearing loss, and isolated optic atrophy associated with hearing loss. Screening of 377 probands with hearing loss did not identify mutations in the WFS2 gene. The WFS1-encoded protein, Wolframin, is known to localize to the endoplasmic reticulum and plays a role in calcium homeostasis. The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin. Lymphoblastoid cells from affected individuals show a significantly greater rise in intracellular calcium when stimulated with thapsigargin, compared with controls, although no difference was observed in resting concentrations of intracellular calcium.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.