Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing
Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin, and reduction of iris pigmen...
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Arak Medical University
2025-03-01
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| Series: | Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk |
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| Online Access: | http://jams.arakmu.ac.ir/article-1-7912-en.pdf |
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| author | Parto Hekmatpou Parnian Hekmatpou Farideh Jalali Mashayekhi Sahar Bayat Milad Gholami |
| author_facet | Parto Hekmatpou Parnian Hekmatpou Farideh Jalali Mashayekhi Sahar Bayat Milad Gholami |
| author_sort | Parto Hekmatpou |
| collection | DOAJ |
| description | Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin, and reduction of iris pigments are the main manifestations of this disease. Also, exposure to sunlight increases the susceptibility of these patients to skin cancer. This study aimed to investigate the genetic cause of a person with Oculocutaneous Albinism by whole exome sequencing.
Methods: A 6cc peripheral blood sample was obtained from a child with oculocutaneous Albinism with an autosomal recessive inheritance pattern. DNA extraction and whole exome sequencing were performed. After analyzing the exome sequencing data, the pathogenic mutation was identified. Then, the Sanger sequencing method was used to confirm and segregate.
Results: The affected case showed homozygous pathogenic mutation (NM_000372.5): c.286dupA p.(Met96AsnfsTer73) in exon 1 of the TYR gene. Oculocutaneous albinism IA was determined according to the mutated gene. Also, the parents of the affected person were heterozygous for the mutation.
Conclusions: The mutation causing oculocutaneous albinism was identified in the affected person using the high-efficiency whole exome sequencing method and then confirming the mutation through Sanger sequencing. Considering the parents' consanguineous marriage of the parents, this finding can be used for preventive measures in the future. |
| format | Article |
| id | doaj-art-2eb5e15d49bd40a8857a9cc1c0753321 |
| institution | OA Journals |
| issn | 1735-5338 2008-644X |
| language | fas |
| publishDate | 2025-03-01 |
| publisher | Arak Medical University |
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| series | Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk |
| spelling | doaj-art-2eb5e15d49bd40a8857a9cc1c07533212025-08-20T01:47:33ZfasArak Medical UniversityMajallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk1735-53382008-644X2025-03-012817883Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome SequencingParto Hekmatpou0Parnian Hekmatpou1Farideh Jalali Mashayekhi2Sahar Bayat3Milad Gholami4 Department of Biology, School of Science, University of Guilan, Rasht, Iran Department of Genetics, School of Biological Sciences, Tehran North Branch, Islamic Azad University, Tehran, Iran Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin, and reduction of iris pigments are the main manifestations of this disease. Also, exposure to sunlight increases the susceptibility of these patients to skin cancer. This study aimed to investigate the genetic cause of a person with Oculocutaneous Albinism by whole exome sequencing. Methods: A 6cc peripheral blood sample was obtained from a child with oculocutaneous Albinism with an autosomal recessive inheritance pattern. DNA extraction and whole exome sequencing were performed. After analyzing the exome sequencing data, the pathogenic mutation was identified. Then, the Sanger sequencing method was used to confirm and segregate. Results: The affected case showed homozygous pathogenic mutation (NM_000372.5): c.286dupA p.(Met96AsnfsTer73) in exon 1 of the TYR gene. Oculocutaneous albinism IA was determined according to the mutated gene. Also, the parents of the affected person were heterozygous for the mutation. Conclusions: The mutation causing oculocutaneous albinism was identified in the affected person using the high-efficiency whole exome sequencing method and then confirming the mutation through Sanger sequencing. Considering the parents' consanguineous marriage of the parents, this finding can be used for preventive measures in the future.http://jams.arakmu.ac.ir/article-1-7912-en.pdfmutationoculocutaneous albinismwhole exome sequencingtyr |
| spellingShingle | Parto Hekmatpou Parnian Hekmatpou Farideh Jalali Mashayekhi Sahar Bayat Milad Gholami Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk mutation oculocutaneous albinism whole exome sequencing tyr |
| title | Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing |
| title_full | Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing |
| title_fullStr | Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing |
| title_full_unstemmed | Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing |
| title_short | Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing |
| title_sort | identification of pathogenic mutation c 286dupa in tyr gene in an individual with oculocutaneous albinism using exome sequencing |
| topic | mutation oculocutaneous albinism whole exome sequencing tyr |
| url | http://jams.arakmu.ac.ir/article-1-7912-en.pdf |
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