Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.
Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extr...
| Publicado en: | Journal of Ophthalmic & Vision Research Vol. 16; no. 4; pp. 602 - 611 |
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| Autores principales: | , , , , |
| Formato: | case study diagnostic images pictorial tables/charts Journal Article |
| Publicado: |
Knowledge E DMCC
Oct-Dec2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=153525242&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 153525242 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 20082010 AY5S jtl: Journal of Ophthalmic & Vision Research issn: 20082010 maglogo: N pubinfo: dt: Oct-Dec2021 vid: 16 iid: 4 pid: 35682 pub: Knowledge E DMCC artinfo: ui: 153525242 153525242 153525242 10.18502/jovr.v16i4.9750 153525242 ppf: 602 ppct: 9 formats: fmt: @attributes: type: P tig: atl: Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects. aug: au: Mirrahimi, Mehraban Safi, Sare Mohammadzadeh, Maryam Doozandeh, Azadeh Suri, Fatemeh affil: Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran sug: subj: Genomics Wolfram Syndrome Affective Symptoms DNA ab: Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extracted from peripheral blood leukocytes with salting out method and all WFS1 exons and their flanking regions were sequenced. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Results: A known pathogenic missense mutation in WFS1 gene (c.1885C>T which leads to p.Arg629Trp in the encoded protein) was identified in all affected individuals. Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features. Conclusion: Identical mutations in the Wolfram syndrome causative gene can lead to variable manifestations of the syndrome even in the same family. Although the medical findings and clinical examination are imperative for the diagnosis of Wolfram syndrome, genetic testing is useful to confirm the diagnosis, especially in cases with possible reduced penetrance of the characteristic signs. pubtype: Academic Journal doctype: case study diagnostic images pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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