ArticleAmerican journal of human genetics2000
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 134 citations in OpenAlex.
- Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries.Journal of immigrant and minority health · 2020Pooled it
- Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity.International journal of molecular sciences · 2025Review
- Loss of Cisd2 Exacerbates the Progression of Age-Related Hearing Loss.Aging and disease · 2024Article
- Review
- Robust Phylogenetic Regression.Systematic biology · 2024Article
- Genomics of Wolfram Syndrome 1 (WFS1).Biomolecules · 2023Review
- Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review.JPGN reports · 2023Article
- Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.Current diabetes reports · 2022Review
- Use of Zebrafish Models to Boost Research in Rare Genetic Diseases.International journal of molecular sciences · 2021Review
- Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.International journal of environmental research and public health · 2021Review
- Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.BMC endocrine disorders · 2021Article
- Behavioral characterization of a novel Cisd2 mutant mouse.Behavioural brain research · 2021Article
- Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.International journal of environmental research and public health · 2021Review
- Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.Biomolecules · 2021Review
- Identification of Three Novel and One Known Mutation in theJournal of clinical research in pediatric endocrinology · 2021Article
- Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding.Frontiers in pediatrics · 2021Article
- Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders.Frontiers in pharmacology · 2021Review
- Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.Pediatric research · 2020Article
- The distribution and functional relevance analysis of runs of homozygosity (ROHs) in Chinese Han female population.Molecular genetics and genomics : MGG · 2018Article
- Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation inFrontiers in endocrinology · 2018Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Wolfram syndrome, which is sometimes referred to as "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an autosomal recessive neurodegenerative disorder for which only insulin-dependent diabetes mellitus and optic atrophy are necessary to make the diagnosis. Researchers have mapped Wolfram syndrome to chromosome 4p16.1, and, recently, a gene encoding a putative transmembrane protein has been cloned and mutations have been identified in patients. To pursue the possibility of locus heterogeneity, 16 patients from four different families were recruited. These patients, who have the Wolfram syndrome phenotype, also have additional features that have not previously been reported. There is an absence of diabetes insipidus in all affected family members. In addition, several patients have profound upper gastrointestinal ulceration and bleeding. With the use of three microsatellite markers (D4S432, D4S3023, and D4S2366) reported to be linked to the chromosome 4p16.1 locus, we significantly excluded linkage in three of the four families. The two affected individuals in one family showed homozygosity for all three markers from the region of linkage on chromosome 4p16.1. For the other three families, genetic heterogeneity for Wolfram syndrome was verified by demonstration of linkage to chromosome 4q22-24. In conclusion, we report the unique clinical findings and linkage-analysis results of 16 patients with Wolfram syndrome and provide further evidence for the genetic heterogeneity of this disorder. We also provide data on a new locus that plays a role in the etiology of insulin-dependent diabetes mellitus.
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