Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation

Zmysłowska, Agnieszka; Borowiec, Maciej; Antosik, Karolina; Szalecki, Mieczysław; Stefański, Adam; Iwaniszewska, Barbara; Jędrzejczyk, Maciej; Pietrzak, Iwona; Młynarski, Wojciech

doi:10.1111/j.1365-2265.2011.04102.x

Cited by 24 publications

(23 citation statements)

References 22 publications

(52 reference statements)

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“…Two individuals were homozygous for the W540X mutation and one was a compound heterozygote with both S167E and W648X mutations. All three mutations were reported earlier to be pathogenic [2,7].…”

Section: Resultsmentioning

confidence: 96%

“…Diagnosis of Wolfram syndrome was definitely confirmed by direct sequencing of WFS1 gene and/or MLPA (SALSA MLPA P163 GJB-WFS1 probemix, MRC-Holland, Amsterdam, the Netherlands), as described previously [2]. Sequence information of the WFS1 gene was derived from GenBank (www.…”

Section: Prace Oryginalnementioning

confidence: 99%

“…ncbi.nlm.nih.gov). For sequencing, all exons, including exon-intron boundaries and 900 bp from the 5' and 3' untranslated region (UTR)/promoter region of WFS1 were amplified by 12 primer pairs and analysed by terminator cycle sequencing using Big Dye v3.0 chemistry on an ABI PRISM 310 capillary DNA sequencer (Applied Biosystems, Foster City, CA, USA) [2].…”

Section: Prace Oryginalnementioning

confidence: 99%

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Ocena częstości występowania zespołu Wolframa w populacji dzieci z cukrzycą

Zmysłowska¹,

Borowiec²,

Fendler³

et al. 2014

Endokrynologia Polska

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Introduction: Wolfram syndrome (WFS) is the most frequent syndromic form of monogenic diabetes coexisting with optic atrophy and many other disorders. The aim of this study was to estimate the prevalence of Wolfram syndrome among children with diabetes in Poland. Material and methods: These calculations were performed among Polish diabetic children, aged 0-18 years, from three administrative regions between January 2005 and December 2011. Epidemiological data was obtained by matching the results from the EURO-WABBPoland Project and the PolPeDiab Registry. Results: Throughout the study period, we confirmed genetic diagnosis of Wolfram syndrome in 13 patients from Poland. Three patients originated from the studied regions with complete epidemiological data on paediatric diabetes. The total number of patients with diagnosed diabetes in the study equalled 2,568 cases.

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Section: Resultsmentioning

confidence: 96%

Section: Prace Oryginalnementioning

confidence: 99%

Section: Prace Oryginalnementioning

confidence: 99%

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Ocena częstości występowania zespołu Wolframa w populacji dzieci z cukrzycą

Zmysłowska¹,

Borowiec²,

Fendler³

et al. 2014

Endokrynologia Polska

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show abstract

“…Several reports suggest that clinical expression of WS is complete in patients harboring inactivating mutations only [14][15][16] and clinical features are likely to occur at a relatively earlier age [15]. Patients carrying one or more missense variants may present with a relatively milder phenotype [17][18][19].…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

et al. 2020

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Background: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and type-2 diabetes mellitus (T2DM). Our study adds to literature significant associations between WS and T2DM. Case presentation: In this study, we analyzed the clinical and genetic data of two families with high prevalence of WS and T2DM. Genetic linkage analysis and DNA sequencing were exploited to identify pathogenic variants. One novel pathogenic variant (c.2243-2244insC) and one known pathogenic (c.1232_1233delCT) (frameshift) variant were identified in exon eight of WFS1 gene. Conclusions: The mutational and phenotypic spectrum of WS is broadened by our report of novel WFS1 mutation. Our results reveal the value of molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. This study also confirms the role of WFS1 in T2DM.

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“…Assuming that the prevalence of Wolfram syndrome in young people with diabetes in Europe is 1/730, as was reported recently in a multicentre study, the number of subjects diagnosed with this syndrome should be much higher than that given in the literature [14]. Genetic studies of WS performed in different European countries usually have included relatively small numbers of patients -41 in the UK [15], 22 in Spain [16], and six in Poland [17].…”

Section: Discussionmentioning

confidence: 99%

Czy nieprawidłowe rozpoznanie zespołu Wolframa jako cukrzycy typu 1 i jej powikłań może być przyczyną rzadkiego rozpoznawania tego zespołu?

Homa

Stefański

Zmysłowska

et al. 2014

Endokrynologia Polska

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Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation

Abstract: Mean age of diagnosis of diabetes among the Polish patients was typical for Wolfram syndrome; however, compound-heterozygous patients were slightly older at diabetes onset.

Cited by 24 publications

References 22 publications

Ocena częstości występowania zespołu Wolframa w populacji dzieci z cukrzycą

Ocena częstości występowania zespołu Wolframa w populacji dzieci z cukrzycą

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

Czy nieprawidłowe rozpoznanie zespołu Wolframa jako cukrzycy typu 1 i jej powikłań może być przyczyną rzadkiego rozpoznawania tego zespołu?

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