2019
DOI: 10.5603/ep.a2018.0064
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The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young

Abstract: Introduction: Maturity onset diabetes of the young (MODY) is a rare form of monogenic diabetes. Being clinically and genetically heterogeneous, it is often misdiagnosed as type 1 or type 2 diabetes, leading to inappropriate therapy. MODY is caused by a single gene mutation. Thirteen genes, defining 13 subtypes, have been identified to cause MODY. A correct diagnosis is important for the right therapy, prognosis, and genetic counselling. Material and methods: Twenty-nine unrelated paediatric patients clinically… Show more

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Cited by 12 publications
(8 citation statements)
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“…According to our results and previous reports, gene defects in DGS1 are mainly entire gene deletions in chromosome 22, and the TBX1 gene plays a major role. (7,19) Because the detection of a large fragment deletion by targeted NGS is limited, (35) the TBX1-MLPA should be performed as the first step of genetic screening. Moreover, consistent with previous studies, early onset (especially prior to 5 years old in this study), additional features besides HP, and positive family history are strong indicators of hereditary HP.…”
Section: Genetic Findings In Patients With Variants Of Unknown Signmentioning
confidence: 99%
“…According to our results and previous reports, gene defects in DGS1 are mainly entire gene deletions in chromosome 22, and the TBX1 gene plays a major role. (7,19) Because the detection of a large fragment deletion by targeted NGS is limited, (35) the TBX1-MLPA should be performed as the first step of genetic screening. Moreover, consistent with previous studies, early onset (especially prior to 5 years old in this study), additional features besides HP, and positive family history are strong indicators of hereditary HP.…”
Section: Genetic Findings In Patients With Variants Of Unknown Signmentioning
confidence: 99%
“…MODY caused by transcription factors HNF4A, HNF1A and HNF1B (MODY1, 3 and 5) impacts a number of genes involved in glucose metabolism, including SLC2A2 (formerly known as GLUT2), INS and ALDOB (38,39). MODY caused by HNF4A, HNF1A and sometimes HNF1B can be robustly responsive to sulfonylurea monotherapy for many years (32,40,41).…”
Section: Discussionmentioning
confidence: 99%
“…MLPA is typically applied to detect large deletion in genes. It is often used where a diagnosis of MODY2 is strongly suspected but no mutation is found by DNA sequencing (48).…”
Section: Discussionmentioning
confidence: 99%