Jurnal Internasional Medical Journal of Indonesia FKUI Vol. 32 No. 2 2023
Mutation of PAX3 and MITF genes in a family with type 1 Waardenburg syndrome: a case series (Case Report/Series)

Jurnal Internasional Medical Journal of Indonesia FKUI Vol. 32 No. 2 2023
Mutation of PAX3 and MITF genes in a family with type 1 Waardenburg syndrome: a case series (Case Report/Series)

genes, Waardenburg syndrome

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.

Habibah Setyawati Muhiddin, Ulfah Rimayanti, Fadhlullah Latama, Andi Muhammad Ichsan, Marliyanti Nur Rahmah Akib, Adelina Titirina Poli, Budu, Andi Pratiwi

https://doi.org/10.13181/mji.cr.236954

Fakultas Kedokteran Universitas Indonesia

June 2023

Sri Wahyuni

pISSN: 0853-1773 • eISSN: 2252-8083

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Jurnal Internasional Medical Journal of Indonesia FKUI Vol. 32 No. 2 2023