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A novel variant in C5ORF42 gene is associated with Joubert syndrome.
Mol Biol Rep. 2020 May; 47(5):4099-4103.MB

Abstract

Joubert syndrome (JS) disease is a clinically and genetically heterogeneous disorder with mutations in more than 35 genes involved in its pathogenicity. Molecular genetic methods including next generation sequencing (NGS) and Sanger sequencing are effective techniques used for identifying rare genetic variants that have a strong effect on disease pathogenesis. In this study, we tested a large pedigree with a history of several affected members with JS. At first the proband was sequenced by NGS technique then, confirmed by sanger sequencing method. After this, all available members of the pedigree were subjected to molecular analysis by sanger sequencing technique. The results of this study showed a novel variant in the C5ORF42 gene c.3080A > T: p. D1027V leading to a substitution of a valine for aspartic acid (D1027V) and may be associated with JS. This variant was present in proband compatible with autosomal recessive pattern. Also this variant was present in all parents (both father and mother) of affected individuals in a heterozygous state. It seems that mutations in C5ORF42 gene are associated with JS. However, the substantial mechanism requires further investigation.

Authors+Show Affiliations

Department of Virus Vaccine, Pasteur Institute of Iran, Tehran, Iran.Cellular and Molecular Research Center, Yasuj University of Medical Sciences, Yasuj, Iran. Student of Research Committee, Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.Sharekord Branch, Islamic Azad University, Sharekord, Iran.Department of Neurology, Pastor Hospital, Bam University of Medical Sciences, Bam, Iran.Department of Medical Genetics, School of Medicine, Bam University of Medical Sciences, Bam, Iran.Department of Anesthesia, School of Paramedical Sciences, Zabol University of Medical Sciences, Zabol, Iran.Department of Medical Education, Brighton and Sussex Medical School, Falmer, Brighton, UK.Metabolic Syndrome Research Centre, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. GhayourM@mums.ac.ir.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32367316

Citation

Mardani, Rajab, et al. "A Novel Variant in C5ORF42 Gene Is Associated With Joubert Syndrome." Molecular Biology Reports, vol. 47, no. 5, 2020, pp. 4099-4103.
Mardani R, Taghizadeh E, Taheri F, et al. A novel variant in C5ORF42 gene is associated with Joubert syndrome. Mol Biol Rep. 2020;47(5):4099-4103.
Mardani, R., Taghizadeh, E., Taheri, F., Raeisi, M., Karimzadeh, M. R., Rostami, D., Ferns, G. A., & Ghayour-Mobarhan, M. (2020). A novel variant in C5ORF42 gene is associated with Joubert syndrome. Molecular Biology Reports, 47(5), 4099-4103. https://doi.org/10.1007/s11033-020-05465-9
Mardani R, et al. A Novel Variant in C5ORF42 Gene Is Associated With Joubert Syndrome. Mol Biol Rep. 2020;47(5):4099-4103. PubMed PMID: 32367316.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel variant in C5ORF42 gene is associated with Joubert syndrome. AU - Mardani,Rajab, AU - Taghizadeh,Eskandar, AU - Taheri,Forough, AU - Raeisi,Mohammadali, AU - Karimzadeh,Mohammad Reza, AU - Rostami,Daryoush, AU - Ferns,Gordon A, AU - Ghayour-Mobarhan,Majid, Y1 - 2020/05/04/ PY - 2020/02/26/received PY - 2020/04/25/accepted PY - 2020/5/6/pubmed PY - 2020/5/6/medline PY - 2020/5/6/entrez KW - C5ORF42 gene KW - Joubert syndrome KW - Whole exome sequencing SP - 4099 EP - 4103 JF - Molecular biology reports JO - Mol. Biol. Rep. VL - 47 IS - 5 N2 - Joubert syndrome (JS) disease is a clinically and genetically heterogeneous disorder with mutations in more than 35 genes involved in its pathogenicity. Molecular genetic methods including next generation sequencing (NGS) and Sanger sequencing are effective techniques used for identifying rare genetic variants that have a strong effect on disease pathogenesis. In this study, we tested a large pedigree with a history of several affected members with JS. At first the proband was sequenced by NGS technique then, confirmed by sanger sequencing method. After this, all available members of the pedigree were subjected to molecular analysis by sanger sequencing technique. The results of this study showed a novel variant in the C5ORF42 gene c.3080A > T: p. D1027V leading to a substitution of a valine for aspartic acid (D1027V) and may be associated with JS. This variant was present in proband compatible with autosomal recessive pattern. Also this variant was present in all parents (both father and mother) of affected individuals in a heterozygous state. It seems that mutations in C5ORF42 gene are associated with JS. However, the substantial mechanism requires further investigation. SN - 1573-4978 UR - https://www.unboundmedicine.com/medline/citation/32367316/A_novel_variant_in_C5ORF42_gene_is_associated_with_Joubert_syndrome_ L2 - https://doi.org/10.1007/s11033-020-05465-9 DB - PRIME DP - Unbound Medicine ER -
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