Cargando…

Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Jeziorny, Krzysztof, Antosik, Karolina, Jakiel, Paulina, Młynarski, Wojciech, Borowiec, Maciej, Zmysłowska, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693916/
https://www.ncbi.nlm.nih.gov/pubmed/33138063
http://dx.doi.org/10.3390/genes11111283
_version_ 1783614856272805888
author Jeziorny, Krzysztof
Antosik, Karolina
Jakiel, Paulina
Młynarski, Wojciech
Borowiec, Maciej
Zmysłowska, Agnieszka
author_facet Jeziorny, Krzysztof
Antosik, Karolina
Jakiel, Paulina
Młynarski, Wojciech
Borowiec, Maciej
Zmysłowska, Agnieszka
author_sort Jeziorny, Krzysztof
collection PubMed
description 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–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.
format Online
Article
Text
id pubmed-7693916
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-76939162020-11-28 Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance Jeziorny, Krzysztof Antosik, Karolina Jakiel, Paulina Młynarski, Wojciech Borowiec, Maciej Zmysłowska, Agnieszka Genes (Basel) Article 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–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. MDPI 2020-10-29 /pmc/articles/PMC7693916/ /pubmed/33138063 http://dx.doi.org/10.3390/genes11111283 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Jeziorny, Krzysztof
Antosik, Karolina
Jakiel, Paulina
Młynarski, Wojciech
Borowiec, Maciej
Zmysłowska, Agnieszka
Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
title Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
title_full Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
title_fullStr Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
title_full_unstemmed Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
title_short Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
title_sort next-generation sequencing in the diagnosis of patients with bardet–biedl syndrome—new variants and relationship with hyperglycemia and insulin resistance
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693916/
https://www.ncbi.nlm.nih.gov/pubmed/33138063
http://dx.doi.org/10.3390/genes11111283
work_keys_str_mv AT jeziornykrzysztof nextgenerationsequencinginthediagnosisofpatientswithbardetbiedlsyndromenewvariantsandrelationshipwithhyperglycemiaandinsulinresistance
AT antosikkarolina nextgenerationsequencinginthediagnosisofpatientswithbardetbiedlsyndromenewvariantsandrelationshipwithhyperglycemiaandinsulinresistance
AT jakielpaulina nextgenerationsequencinginthediagnosisofpatientswithbardetbiedlsyndromenewvariantsandrelationshipwithhyperglycemiaandinsulinresistance
AT młynarskiwojciech nextgenerationsequencinginthediagnosisofpatientswithbardetbiedlsyndromenewvariantsandrelationshipwithhyperglycemiaandinsulinresistance
AT borowiecmaciej nextgenerationsequencinginthediagnosisofpatientswithbardetbiedlsyndromenewvariantsandrelationshipwithhyperglycemiaandinsulinresistance
AT zmysłowskaagnieszka nextgenerationsequencinginthediagnosisofpatientswithbardetbiedlsyndromenewvariantsandrelationshipwithhyperglycemiaandinsulinresistance