Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome.

doi:10.1371/journal.pone.0326566

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Article

Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome.

PloS one - 1 Jan 2025

Ganguly Agnish, Pal Samudra, Chatterjee Srilagna, Das Madhusudan, Sarkar Sumantra, Ghosh Sujay

Abstract excerpt

Individuals with Down syndrome (DS) exhibit a higher incidence of congenital heart defects (CHD). The objective of the present study was to investigate ethnicity-specific genetic variants that increase the risk of CHD in children with DS from the Indian Bengali population. We conducted whole exome sequencing of the genomes of Down syndrome children with and without CHD and subsequently tested the identified...

Read the complete abstract on PubMed

Topics

Humans
Connexin 43
Female
Kinesins
Male
Down Syndrome
Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Cyclic Nucleotide Phosphodiesterases, Type 1

Child, Preschool

Genetic Predisposition to Disease

Polymorphism, Single Nucleotide

Infant

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 40569905
DOI: 10.1371/journal.pone.0326566
PMCID: PMC12200707

Genes

GJA1
KIF7
PDE1C

Provenance

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