Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
| Autor: | Angeline Lai, Mark Jean Aan Koh, Jiin Ying Lim, Chew Yin Jasmine Goh, Heming Wei, Ene-Choo Tan, Ee Shien Tan, Terrence Thomas, Sylvia Kam, Ivy Ng, Teck Wah Ting, Breana Cham, Derrick Chan, Saumya Shekhar Jamuar, Maggie Brett, Grace Lin |
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| Rok vydání: | 2020 |
| Předmět: |
Genetics
0303 health sciences business.industry 030305 genetics & heredity Phenotype Southeast asia 03 medical and health sciences symbols.namesake Clinical diagnosis Pediatrics Perinatology and Child Health Mendelian inheritance symbols Medicine In patient business Mendelian disorders Gene Exome sequencing 030304 developmental biology |
| Zdroj: | Archives of Disease in Childhood. 106:38-43 |
| ISSN: | 1468-2044 0003-9888 |
| Popis: | ObjectiveTo test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders.MethodsNext-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians.ResultsThere were 56 pathogenic and 36 likely pathogenic variants across 57 genes identified in 87 patients. Causal mutations were more likely to be truncating and from patients with a prior clinical diagnosis. Another 18 promising variants need further evaluation for more evidence to meet the requirement for potential upgrade to pathogenic. Forty-five of the 92 clinically significant variants were novel.ConclusionThe 40.3% positive yield compares favourably with similar studies using either this panel or whole exome sequencing, demonstrating that large gene panels could be a good alternative to whole exome sequencing for quick genetic confirmation of Mendelian disorders. |
| Databáze: | OpenAIRE |
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