Diagnostik auf Maturity-onset Diabetes of the Young (MODY) mit next generation sequencing: Opportunitäten für eine rationale und verbesserte Versorgung Betroffener

2013 ◽  
Vol 8 (S 01) ◽  
Author(s):  
MK Balogh ◽  
G Wildhardt ◽  
AJ Driesel ◽  
D Steinberger
Keyword(s):  
Next Generation Sequencing ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Onset Diabetes ◽  
Generation Sequencing

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

2018 ◽  
Vol 31 (12) ◽  
pp. 1295-1304 ◽  
Author(s):  
Taha R. Özdemir ◽  
Özgür Kırbıyık ◽  
Bumin N. Dündar ◽  
Ayhan Abacı ◽  
Özge Ö. Kaya ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants ◽  
Onset Diabetes ◽  
Frequent Mutations ◽  
Standards And Guidelines ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic diabetes. Fourteen genes have been identified, each leading to cause a different type of MODY. The aims of this study were to reveal both known and novel variants in MODY genes in patients with MODY using targeted next generation sequencing (NGS) and to present the genotype-phenotype correlations. Methods Mutation analysis of MODY genes (GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS and KCNJ11) was performed using targeted NGS in 106 patients with a clinical diagnosis of MODY. The variants were evaluated according to American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines recommendations. Results A total of 18 (17%) variants were revealed among all patients. Seven variants in GCK, six in HNF4A, four in HNF1A and one in ABCC8 genes were found. Eight of them were previously published and 10 of them were assessed as novel pathogenic or likely pathogenic variants. Conclusions While the most frequent mutations are found in the HNF1A gene in the literature, most of the variants were found in the GCK gene in our patient group using the NGS method, which allows simultaneous analysis of multiple genes in a single panel.

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing

2014 ◽  
Vol 82 (4) ◽  
pp. 533-542 ◽  
Author(s):  
Aaron Chapla ◽  
Mahesh Doddabelavangala Mruthyunjaya ◽  
Hesarghatta Shyamasunder Asha ◽  
Denny Varghese ◽  
Manika Varshney ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Onset Diabetes ◽  
Mutation Pattern ◽  
Generation Sequencing

scholarly journals Study of Thirteen Causal Genes in Turkish Patients with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) using a Targeted Next-Generation Sequencing Panel

2021 ◽  
Author(s):  
Mustafa Dogan ◽  
Recep Eroz ◽  
Semih Bolu ◽  
Hüseyin Yüce ◽  
Alper Gezdirici ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Molecular Defects ◽  
Pathogenic Variants ◽  
Onset Diabetes ◽  
Effective Manner ◽  
Long Term Treatment ◽  
Generation Sequencing

Abstract Background: Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of thirteen MODY-related genes involving ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 was designed and subsequently implemented to screen 44 patients for genetic variants. Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 22.7%. Eight variants of uncertain significance were also detected. Four novel pathogenic or likely pathogenic variants were detected in the genes GCK (c.1301G>T [p.Cys434Phe]), HNF1A (c.505_506delAA [p.Lys169AlafsTer18]), ABCC8 (c.3584C>T [p.Thr1195Ile]), and CEL (c.679-1G>A). Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 1–2% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.

Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Ahmet Anık ◽  
Gönül Çatlı ◽  
Ayhan Abacı ◽  
Erkan Sarı ◽  
Ediz Yeşilkaya ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Genetic Etiology ◽  
Hospital Records ◽  
Turkish Children ◽  
Molecular Analyses ◽  
Targeted Next Generation Sequencing ◽  
Onset Diabetes ◽  
Generation Sequencing

AbstractTo perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.Forty-two children diagnosed with MODY and their parents were enrolled in the study. Clinical and laboratory characteristics of the patients at the time of diagnosis were obtained from hospital records. Molecular analyses ofA mutation in MODY genes was identified in 12 (29%) of the cases.The results of this study showed that mutations in the

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing

2016 ◽  
Vol 29 (4) ◽  
Author(s):  
Sebahat Yılmaz Ağladıoğlu ◽  
Zehra Aycan ◽  
Semra Çetinkaya ◽  
Veysel Nijat Baş ◽  
Aşan Önder ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Next Generation Sequencing ◽  
Point Mutations ◽  
Maturity Onset Diabetes ◽  
Turkish Children ◽  
Onset Diabetes ◽  
Molecular Studies ◽  
Generation Sequencing

AbstractMaturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11A panel of 11We identified 28 (65%) point mutations among 43 patients. Eighteen patients haveThis is the first study including molecular studies of 11

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