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

Authors

  • 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

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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References

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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 &lt;em&gt;PAX3&lt;/em&gt; and &lt;em&gt;MITF&lt;/em&gt; genes in a family with type 1 Waardenburg syndrome: a case series. Med J Indones [Internet]. 2023Oct.4 [cited 2024Dec.11];32(2):137-42. Available from: https://mji.ui.ac.id/journal/index.php/mji/article/view/6954

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Case Report/Series
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