Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
Abstract 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...
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| Format: | Article |
| Language: | English |
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Knowledge E
2021-10-01
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| Series: | Journal of Ophthalmic & Vision Research |
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| Online Access: | https://doi.org/10.18502/jovr.v16i4.9750 |
| _version_ | 1811193256660172800 |
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| author | Mehraban Mirrahimi Sare Safi Maryam Mohammadzadeh Azadeh Doozandeh Fatemeh Suri |
| author_facet | Mehraban Mirrahimi Sare Safi Maryam Mohammadzadeh Azadeh Doozandeh Fatemeh Suri |
| author_sort | Mehraban Mirrahimi |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-12T00:05:22Z |
| format | Article |
| id | doaj.art-c6e33f8814c74ab7802c31e7383e0242 |
| institution | Directory Open Access Journal |
| issn | 2008-2010 2008-322X |
| language | English |
| last_indexed | 2024-04-12T00:05:22Z |
| publishDate | 2021-10-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Journal of Ophthalmic & Vision Research |
| spelling | doaj.art-c6e33f8814c74ab7802c31e7383e02422022-12-22T03:56:08ZengKnowledge EJournal of Ophthalmic & Vision Research2008-20102008-322X2021-10-0116460261010.18502/jovr.v16i4.9750jovr.v16i4.9750Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected SubjectsMehraban Mirrahimi0Sare Safi1Maryam Mohammadzadeh2Azadeh Doozandeh3Fatemeh Suri4 Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, IranAbstract 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.https://doi.org/10.18502/jovr.v16i4.9750variable clinical manifestationswfs1 genewolfram syndrome |
| spellingShingle | Mehraban Mirrahimi Sare Safi Maryam Mohammadzadeh Azadeh Doozandeh Fatemeh Suri Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects Journal of Ophthalmic & Vision Research variable clinical manifestations wfs1 gene wolfram syndrome |
| title | Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects |
| title_full | Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects |
| title_fullStr | Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects |
| title_full_unstemmed | Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects |
| title_short | Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects |
| title_sort | variable expressivity of wolfram syndrome in a family with multiple affected subjects |
| topic | variable clinical manifestations wfs1 gene wolfram syndrome |
| url | https://doi.org/10.18502/jovr.v16i4.9750 |
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