Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
| Autor: | Maciej Borowiec, Karolina Antosik, Krzysztof Jeziorny, Wojciech Młynarski, Agnieszka Zmysłowska, Paulina Jakiel |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatric Obesity obesity congenital hereditary and neonatal diseases and abnormalities Adolescent Chaperonins lcsh:QH426-470 BBS10 030105 genetics & heredity BBS9 Bioinformatics Article DNA sequencing 03 medical and health sciences Insulin resistance Bardet–Biedl syndrome insulin resistance Genetics medicine Humans Child Bardet-Biedl Syndrome Genetic Association Studies Genetics (clinical) Genetic testing Base Sequence medicine.diagnostic_test Polydactyly business.industry Genetic Variation High-Throughput Nucleotide Sequencing Infant Sequence Analysis DNA medicine.disease Obesity Cytoskeletal Proteins lcsh:Genetics 030104 developmental biology Child Preschool NGS method Mutation Female Poland hyperglycemia business |
| Zdroj: | Genes Volume 11 Issue 11 Genes, Vol 11, Iss 1283, p 1283 (2020) |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes11111283 |
| Popis: | Bardet-Biedl syndrome (BBS) is a rare autosomal recessively inherited disease with major clinical symptoms such as: obesity, retinal degeneration, polydactyly and renal abnormalities. The aim of the study was to assess the spectrum of gene variants among patients with BBS, identified on the basis of nationwide genetic studies of monogenic diabetes in Polish population. Out of 575 patients enrolled for genetic testing from February 2017 to July 2019, 25 patients with a clinical suspicion of BBS were selected. The identification of pathogenic variants was performed by using targeted next-generation sequencing (NGS) on Illumina NextSeq 550 platform involving the SureSelect assay (Agilent, Santa Clara, CA, USA). BBS was genetically confirmed in 10 of 25 suspected patients. In patients, 14 different variants were found in six genes, mainly in BBS9 and BBS10 gene, including two novel variants. A strong association between hyperglycemia and insulin resistance in patients and the presence of variants in BBS9 gene was observed. Identification of 14 variants, including two new mutations using the NGS method, is the first molecular characteristic of Polish patients with Bardet&ndash Biedl syndrome. It gives hope for earlier proper diagnosis of BBS in future patients selected from children with early childhood obesity and their medical multidisciplinary care. |
| Databáze: | OpenAIRE |
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