| Autor: |
Hanif, Misbah Iqbal, Ahmed, Hamza, Ibrahim, Mohsina Noor, Raza, Syed Jamal, Ahmed, Syed Ajaz |
| Předmět: |
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| Zdroj: |
Journal of Ayub Medical College Abbottabad - Pakistan; Apr-Jun2024, Vol. 36 Issue 2, p433-435, 3p |
| Abstrakt: |
Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS- 1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found in the membrane of the endoplasmic reticulum. Although Wolfram Syndrome is generally considered an autosomal recessive disorder, a milder non-classic autosomal dominant form has been reported in association with a single pathogenic or likely pathogenic variant in WFS-1 gene. Objective was to date more than 200 variants have been identified in the WFS-1 gene. This case report aims to highlight and explain a novel de-novo likely pathogenic variant of the WFS-1 gene in a Pakistani child, which is highly plausible to induce nonclassic WFS-1 spectrum disorder (MedGen UID: 481988). Case Discussion: Our patient, a sevenyear- old boy, initially sought medical attention at our endocrine clinic for diabetic control. Besides diabetes, other notable features included short stature, sensorineural deafness and a history of bilateral cataracts. Family history was significant for parental consanguinity. A clinical diagnosis of Wolfram Syndrome was suspected and a multi gene panel test which included the WFS-1 gene was ordered. Initial report noted a variant of uncertain significance in the WFS-1 gene at c.2586G>T (p.Lys862Asn), which was later reclassified as a likely pathogenic variant by the laboratory based on the patient's clinical presentation. Conclusion: Access to genetic testing is not readily available in Pakistan and our population is under studied and these complex diagnoses are often missed. In this study, we present a novel de novo likely pathogenic variant in the WFS-1 gene that causes nonclassic WFS-1 spectrum disorder in a child from our population. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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