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Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.
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- Author(s): Berberich AJ;Berberich AJ; Wang J; Wang J; Cao H; Cao H; McIntyre AD; McIntyre AD; Spaic T; Spaic T; Miller DB; Miller DB; Stock S; Stock S; Huot C; Huot C; Stein R; Stein R; Knoll J; Knoll J; Yang P; Yang P; Robinson JF; Robinson JF; Hegele RA; Hegele RA; Hegele RA
- Source:
Canadian journal of diabetes [Can J Diabetes] 2021 Feb; Vol. 45 (1), pp. 71-77. Date of Electronic Publication: 2020 Jun 08.- Publication Type:
Case Reports; Journal Article- Language:
English - Source:
- Additional Information
- Source: Publisher: Canadian Diabetes Association Country of Publication: Canada NLM ID: 101148810 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3840 (Electronic) Linking ISSN: 14992671 NLM ISO Abbreviation: Can J Diabetes Subsets: MEDLINE
- Publication Information: Original Publication: Toronto : Canadian Diabetes Association, 2002-
- Subject Terms: DNA Copy Number Variations* ; Gene Deletion* ; Mutation*; Biomarkers/*analysis ; Diabetes Mellitus, Type 2/*diagnosis ; Genetic Testing/*methods ; Hepatocyte Nuclear Factor 1-beta/*genetics; Adolescent ; Child ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Prognosis
- Abstract: Objectives: Copy-number variations (CNVs) are large-scale deletions or duplications of DNA that have required specialized detection methods, such as microarray-based genomic hybridization or multiplex ligation probe amplification. However, recent advances in bioinformatics have made it possible to detect CNVs from next-generation DNA sequencing (NGS) data. Maturity-onset diabetes of the young (MODY) 5 is a subtype of autosomal-dominant diabetes that is often caused by heterozygous deletions involving the HNF1B gene on chromosome 17q12. We evaluated the utility of bioinformatic processing of raw NGS data to detect chromosome 17q12 deletions in MODY5 patients.
Methods: NGS data from 57 patients clinically suspected to have MODY but who were negative for pathogenic mutations using a targeted panel were re-examined using a CNV calling tool (CNV Caller, VarSeq version 1.4.3). Potential CNVs for MODY5 were then confirmed using whole-exome sequencing, cytogenetic analysis and breakpoint analysis when possible.
Results: Whole-gene deletions in HNF1B, ranging from 1.46 to 1.85 million basepairs in size, were detected in 3 individuals with features of MODY5. These were confirmed by independent methods to be part of a more extensive 17q12 deletion syndrome. Two additional patients carrying a 17q12 deletion were subsequently diagnosed using this method.
Conclusions: Large-scale deletions are the most common cause of MODY5 and can be detected directly from NGS data, without the need for additional methods.
(Copyright © 2020 Canadian Diabetes Association. All rights reserved.) - Contributed Indexing: Keywords: HNF1B; copy-number variation; diabetes; diabète; diabète de la maturité apparaissant chez le jeune; genetics; génétique; maturity-onset diabetes of the young; renal cysts and diabetes syndrome; syndrome kystes rénaux-diabète; variabilité du nombre de copies
- Accession Number: 0 (Biomarkers)
0 (HNF1B protein, human)
138674-15-4 (Hepatocyte Nuclear Factor 1-beta) - Subject Terms: Mason-Type Diabetes
- Publication Date: Date Created: 20201004 Date Completed: 20211011 Latest Revision: 20211011
- Publication Date: 20240628
- Accession Number: 10.1016/j.jcjd.2020.06.001
- Accession Number: 33011132
- Source:
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