English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Open

Presents the pdf analysis as premium feature

PDF Analysis

Insights

Presents the summarisation as premium feature

Summarisation

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

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&gt;C on OLR1 and c.-8C&gt;G on PSMA6 were previously associated with myocardial infarction. The variants c.1936A&gt;G on AKAP10 and c.575A&gt;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&gt;A on EPHX2 and c.214C&gt;A on GHRL . In addition, three variants associated with colon cancer were discovered. Specifically, the reported variants were c.723G&gt;A on CCND1 and c.91T&gt;A on AURKA proto-oncogenes as well as c.827A&gt;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.

pediatric reports

Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention