Wolfram syndrome: a clinical and molecular genetic analysis

Eller, Philipp

doi:10.1136/jmg.38.11.e37

Cited by 21 publications

(14 citation statements)

References 30 publications

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“…Alternative splicing at the acceptor site of exon 2 leads to a 4-bp deletion in the 5 0 UTR and results in a modification of the translation initiation consensus sequence [Eller et al, 2001;Van den Ouweland et al, 2003]. The highly conserved purine at position -3 is changed to a pyrimidine in the shorter splice variant.…”

Section: Wfs1 Splice Variantmentioning

confidence: 98%

Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Cryns

Sivakumaran

Ouweland³

et al. 2003

Hum. Mutat.

169

163

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WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition, several WFS1 sequence variants have been shown to be significantly associated with diabetes mellitus and this gene has also been implicated in psychiatric diseases. Wolfram syndrome is highly variable in its clinical manifestations, which include diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Wolfram syndrome mutations are spread over the entire coding region, and are typically inactivating, suggesting that a loss of function causes the disease phenotype. In contrast, only non-inactivating mutations have been found in DFNA6/14 families, and these mutations are mainly located in the C-terminal protein domain. In this paper, we provide an overview of the currently known disease-causing and benign allele variants of WFS1 and propose a potential genotype-phenotype correlation for Wolfram syndrome and LFSNHI.

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Section: Wfs1 Splice Variantmentioning

confidence: 98%

Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Cryns

Sivakumaran

Ouweland³

et al. 2003

Hum. Mutat.

169

163

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“…There are many types of mutations in WFS1 gene, as shown in Table 2, such as deletion, insertion, single nucleotide mutation, and also frameshift. However, there seems to be less frameshift mutations in Chinese population (for example, references [12] and [4], as well as the present study) than population of other races, such as the Brazilians [14] or other Latin Americans [29] reported recently. Fewer reports in Chinese might be one of the causes.…”

Section: Discussionmentioning

confidence: 85%

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures

Ming

Wang

et al. 2010

Endocr

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Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other non-sense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.

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“…Mutational studies in Wolfram syndrome patients have identified a wide spectrum of mutations distributed throughout the coding sequence of the WFS1 gene mapped to chromosome 4p16.1. Today more than 100 SNPs have been reported [6,11–21,23,25,26,28,29,33,34], not including all other forms of mutations such as deletions, insertions, etc. The distribution of mutations indicates no obvious hot‐spots and the predominant theme seems to be truncation and subsequent loss of, or mutations in, the carboxy tail of the protein.…”

Section: Discussionmentioning

confidence: 99%

“…comprises 8 exons and spans 33.4 kb of genomic DNA [6,11]. Mutations, including stop codon, frameshift, deletion and insertion mutations, mostly located in exon 8, have been identified in WFS families [6,11–17]. Many of the identified mutations have been tested for linkage and association with different diseases [18–28] and specific genotype/phenotype correlations have also been reported [23,29].…”

Section: Introductionmentioning

confidence: 99%

Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene

et al. 2003

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Wolfram syndrome: a clinical and molecular genetic analysis

Cited by 21 publications

References 30 publications

Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures

Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene

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