Mutation of PAX3 and MITF genes in a family with type 1 Waardenburg syndrome: a case series

  • Habibah Setyawati Muhiddin Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Ulfah Rimayanti Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Fadhlullah Latama Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Andi Muhammad Ichsan Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Marliyanti Nurrahmah Akib Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Adelina Titirina Poli Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Budu Department of Ophthalmology, Faculty of Medicine, Universitas Hasanuddin, Makassar, Indonesia
  • Andi Pratiwi Department of Ophthalmology, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia
DOI: https://doi.org/10.13181/mji.cr.236954
Keywords: genes, Waardenburg syndrome
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Abstract

Waardenburg syndrome (WS) is a rare genetical disorder, characterized with pigmentary abnormalities of the eyes, skin, hair, dystopia canthorum, and sensorineural deafness. In Majene, West Sulawesi, 12 members of a 4-generation family presented manifestations of WS. We examined the presence of mutations in 5 family members with type 1 WS and the other 5 normal phenotype family members to identify mutations of PAX3 and MITF genes. Ophthalmic examination and peripheral blood test were done. Conventional polymerase chain reaction and direct Sanger sequencing were then performed to detect the mutation. 26 mutations of PAX3 gene were only identified in patients with major and minor criteria, including 7 missense mutations (substitutions) and 2 insertions in exons 1, 2, and 6, as well as 17 intronic changes in intron 8. No mutations were detected in MITF gene.

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Published
2023-10-04
How to Cite
1.
Muhiddin HS, Rimayanti U, Latama F, Ichsan AM, Akib MN, Poli AT, Budu, Pratiwi A. Mutation of <em>PAX3</em> and <em>MITF</em&gt; genes in a family with type 1 Waardenburg syndrome: a case series. Med J Indones [Internet]. 2023Oct.4 [cited 2024May1];32(2):137-42. Available from: http://mji.ui.ac.id/journal/index.php/mji/article/view/6954
Issue
Vol. 32 No. 2 (2023): June
Section
Case Report/Series

Copyright (c) 2023 Habibah Setyawati Muhiddin, Ulfah Rimayanti, Fadhlullah Latama, Andi Muhammad Ichsan, Marliyanti Nurrahmah Akib, Adelina Titirina Poli, Budu, Andi Pratiwi

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