ArticleJournal of ophthalmic & vision research
Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.
Article in Journal of ophthalmic & vision research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Neutropenia Through Enhanced Neutrophil Apoptosis and Secondary Necrosis in Wolfram Syndrome 1Turkish journal of haematology : official journal of Turkish Society of Haematology · 2026Article
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5 authors at 1 institution in 1 country.
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Abstract
purposeTo study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family.
methodsComplete 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
resultsA known pathogenic missense mutation in
conclusionIdentical 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.
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