Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease
Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents we...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2023-10-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/10473 |
| _version_ | 1797658883585474560 |
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| author | Masoumeh Mohebi Matin Heidari Mansour Heidari |
| author_facet | Masoumeh Mohebi Matin Heidari Mansour Heidari |
| author_sort | Masoumeh Mohebi |
| collection | DOAJ |
| description |
Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents were then amplified through polymerase chain reaction (PCR) and the obtained products were screened for mutations in ABCA4 gene by Sanger chain terminating dideoxy nucleotide sequencing. Two novel potentially pathogenic mutations in compound heterozygous state (c.2713del p.E905Rfs*27 and c.5172G>A p.W1724X) were identified in ABCA4 gene which may contribute to the proband’s Stargardt disease phenotype. In general, the WES successfully identified novel causal mutations in ABCA4 gene which may be used for genetic counseling, prenatal diagnosis (PND), and preimplantation genetic diagnosis (PGD) of Stargardt disease.
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| first_indexed | 2024-03-11T18:06:50Z |
| format | Article |
| id | doaj.art-11cf191308d7460e9fd30778999b154b |
| institution | Directory Open Access Journal |
| issn | 0044-6025 1735-9694 |
| language | English |
| last_indexed | 2024-03-11T18:06:50Z |
| publishDate | 2023-10-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Acta Medica Iranica |
| spelling | doaj.art-11cf191308d7460e9fd30778999b154b2023-10-17T05:03:20ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942023-10-0161610.18502/acta.v61i6.13832Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt DiseaseMasoumeh Mohebi0Matin Heidari1Mansour Heidari2Farabi Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Molecular Biology, Islamic Azad University of Qom, Qom, IranDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents were then amplified through polymerase chain reaction (PCR) and the obtained products were screened for mutations in ABCA4 gene by Sanger chain terminating dideoxy nucleotide sequencing. Two novel potentially pathogenic mutations in compound heterozygous state (c.2713del p.E905Rfs*27 and c.5172G>A p.W1724X) were identified in ABCA4 gene which may contribute to the proband’s Stargardt disease phenotype. In general, the WES successfully identified novel causal mutations in ABCA4 gene which may be used for genetic counseling, prenatal diagnosis (PND), and preimplantation genetic diagnosis (PGD) of Stargardt disease. https://acta.tums.ac.ir/index.php/acta/article/view/10473Stargardt syndromeATP binding cassette subfamily a member 4 (ABCA4) geneRetinitis pigmentosaWhole exome sequencing |
| spellingShingle | Masoumeh Mohebi Matin Heidari Mansour Heidari Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease Acta Medica Iranica Stargardt syndrome ATP binding cassette subfamily a member 4 (ABCA4) gene Retinitis pigmentosa Whole exome sequencing |
| title | Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease |
| title_full | Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease |
| title_fullStr | Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease |
| title_full_unstemmed | Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease |
| title_short | Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease |
| title_sort | identification of two novel mutations in abca4 gene in a patient with stargardt disease |
| topic | Stargardt syndrome ATP binding cassette subfamily a member 4 (ABCA4) gene Retinitis pigmentosa Whole exome sequencing |
| url | https://acta.tums.ac.ir/index.php/acta/article/view/10473 |
| work_keys_str_mv | AT masoumehmohebi identificationoftwonovelmutationsinabca4geneinapatientwithstargardtdisease AT matinheidari identificationoftwonovelmutationsinabca4geneinapatientwithstargardtdisease AT mansourheidari identificationoftwonovelmutationsinabca4geneinapatientwithstargardtdisease |