Exome sequencing reveals novel IRXI mutation in congenital heart disease
| Autor: | Qidi Wang, Xu Ma, Hui Li, Cailing Lu, Changlong Guo, Liping Yang, Yue Qiu, Haiyan Luo, Meng Du, Yuting Wang, Lisha An, Xiao Fang Cao |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Heart Defects Congenital Male 0301 basic medicine Cancer Research Adolescent DNA Mutational Analysis Biology medicine.disease_cause Polymorphism Single Nucleotide Biochemistry DNA sequencing Young Adult 03 medical and health sciences symbols.namesake Genetic variation Genetics medicine Animals Humans cardiovascular diseases Child Heart formation Molecular Biology Gene Exome Exome sequencing Aged Homeodomain Proteins Sanger sequencing Mutation Base Sequence Infant Newborn High-Throughput Nucleotide Sequencing Infant Middle Aged 030104 developmental biology Oncology Case-Control Studies Child Preschool symbols Molecular Medicine Female Sequence Alignment Transcription Factors |
| Zdroj: | Molecular Medicine Reports. 15:3193-3197 |
| ISSN: | 1791-3004 1791-2997 |
| DOI: | 10.3892/mmr.2017.6410 |
| Popis: | Genetic variation in specific transcription factors during heart formation may lead to congenital heart disease (CHD) or even miscarriage. The aim of the present study was to identify CHD‑associated genes using next generation sequencing (NGS). The whole exome DNA sequence was obtained from a stillborn fetus diagnosed with tricuspid atresia and complete transposition of the great arteries using high‑throughput sequencing methods. Subsequently, genetic variants of CHD‑associated genes were selected and verified in 215 non‑syndromic CHD patients and 249 healthy control subjects using polymerase chain reaction combined with Sanger sequencing. Genetic variants of previously reported CHD‑inducing genes, such as cysteine rich with EGF like domains 1 and cbp/p300‑interacting transactivator with Glu/Asp rich carboxy‑terminal domain 2, were discovered through the NGS analysis. In addition, a novel non‑synonymous mutation of the iroquois homeobox 1 (IRX1) gene (p.Gln240Glu) was identified. A total of three non‑synonymous mutations (p.Gln240Glu, p.Ser298Asn and p.Ala381Glu) of the IRX1 gene were verified in 215 non‑syndromic CHD patients, but not in 249 healthy volunteers. The results demonstrated that NGS is a powerful tool to study the etiology of CHD. In addition, the results suggest that genetic variants of the IRX1 gene may contribute to the pathogenesis of CHD. |
| Databáze: | OpenAIRE |
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