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Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention
- Source :
- Pediatric Reports, Pediatric Reports, Vol 13, Iss 6, Pp 45-56 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI, 2021.
-
Abstract
- Congenital anomalies may have an increased risk of noncommunicable diseases (NCDs) We performed a clinical exome analysis in an infant affected by “Vertebral, Anorectal, Cardiac, Tracheoesophageal, Genitourinary, and Limb” (VACTERL) malformation association to identify potential biomarkers that may be helpful for preventing malignancy risk or other chronic processes. Among the variants, six variants that may be linked with VACTERL were identified in the exome analysis. The variants c.501G>C on OLR1 and c.-8C>G on PSMA6 were previously associated with myocardial infarction. The variants c.1936A>G on AKAP10 and c.575A>G on PON1 are linked to defects in cardiac conduction and artery disease, respectively. Alterations in metabolism were also suggested by the variants c.860G>A on EPHX2 and c.214C>A on GHRL. In addition, three variants associated with colon cancer were discovered. Specifically, the reported variants were c.723G>A on CCND1 and c.91T>A on AURKA proto-oncogenes as well as c.827A>C in the tumor suppressor PTPRJ. A further inspection identified 15 rare variants carried by cancer genes. Specifically, these mutations are located on five tumor suppressors (SDHA, RB1CC1, PTCH1, DMBT1, BCR) and eight proto-oncogenes (MERTK, CSF1R, MYB, ROS1, PCM1, FGFR2, MYH11, BRCC3) and have an allele frequency lower than 0.01 in the Genome Aggregation Database (GnomAD). We observed that the cardiac and metabolic phenotypic traits are linked with the genotype of the patient. In addition, the risk of developing neoplasia cannot be excluded a priori. Long-term surgical issues of patients with VATER syndrome could benefit from the clinical exome sequencing of a personalized risk assessment for the appearance of further disease in pubertal timing and adult age.
- Subjects :
- lcsh:Medicine
PSMA6
Case Report
Disease
Bioinformatics
Malignancy
Pediatrics
03 medical and health sciences
0302 clinical medicine
prevention
Genotype
Cardiac conduction
VACTERL
Medicine
Exome
Allele frequency
Exome sequencing
030304 developmental biology
risk
0303 health sciences
business.industry
lcsh:R
lcsh:RJ1-570
healthcare
personalized
lcsh:Pediatrics
medicine.disease
infant
030220 oncology & carcinogenesis
business
exome sequencing
Subjects
Details
- Language :
- English
- ISSN :
- 20367503 and 2036749X
- Volume :
- 13
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Pediatric Reports
- Accession number :
- edsair.doi.dedup.....6c32dd63976f7341d22c314c09814f28