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Avicenna Journal of Medical Biotechnology، جلد ۱۳، شماره ۴، صفحات ۲۳۰-۲۳۳
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome |
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| چکیده انگلیسی مقاله |
Background: Bardet–Biedl Syndrome (BBS) is a rare pleiotropic autosomal recessive disease related to ciliopathies with approximately 25 causative genes. BBS is a multisystemic disorder with wide spectrum of manifestations including truncal obesity, retinal dystrophy, male hypogenitalism, postaxial polydactyly, learning difficulties, and renal abnormalities. Methods: A consanguineous Iranian family with a 28-year-old daughter affected with BBS, resulting from a first cousin marriage, was examined. After clinical examination, Whole Exome Sequencing (WES) was applied. Following the analysis of exome data, Sanger sequencing was used to confirm as well as to co-segregate the candidate variant with the phenotype. Results: A novel homozygous variant [c. 2035G>A (p.E679K)] in exon 2 of the BBS10 gene was found which was categorized as likely pathogenic based on American College of Medical Genetics and Genomics (ACMG) guidelines and criteria. In this study, the variant was fully co-segregated with the phenotype in the family. Conclusion: Despite overlapping with other ciliopathies in terms of the phenotype, the BBS has high genetic heterogeneity and clinical variability even among affected members of a family. The symptoms observed in patients are largely related to the genes involved and the type of mutations in the BBS. In this study, in addition to phenotype description of the proband harboring a novel disease-causing variant in BBS10 gene, the spectrum of BBS symptoms was expanded. The findings of this study can be useful in genetic counseling, especially for risk estimation and prenatal diagnosis. |
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| کلیدواژه‌های انگلیسی مقاله |
Bardet–Biedl syndrome, Mutation, Whole exome sequencing |
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| نویسندگان مقاله |
| Mohammad Dehani
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
| Davood Zare-Abdollahi
| Ata Bushehri
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
| Azadeh Dehghani
Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Ashkezar, Iran
| Jalil Effati
Meybod Genetic Research Center, State Welfare Organization, Yazd, Iran
| Seyed Ali Mohammad Miratashi
Department of Ophthalmology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
| Hamid Reza Khorram Khorshid
Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran
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| نشانی اینترنتی |
https://www.ajmb.org/En/Article.aspx?id=40482 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
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