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

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

doi:10.1371/journal.pone.0326566

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Open Access

Peer-reviewed

Research 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

Agnish Ganguly,

Roles Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliation Cytogenetics-Genomics and Down syndrome Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India
⨯
Samudra Pal,

Roles Data curation, Methodology, Software, Writing – review & editing

Affiliations Cytogenetics-Genomics and Down syndrome Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India, Department of Biotechnology, School of Life Sciences, Swami Vivekananda University, Barrackpore, West Bengal, India
⨯
Srilagna Chatterjee,

Roles Data curation

Affiliation Department of Zoology, University of Calcutta, Kolkata, West Bengal, India
⨯
Madhusudan Das,

Roles Resources, Writing – review & editing

Affiliation Department of Zoology, University of Calcutta, Kolkata, West Bengal, India
⨯
Sumantra Sarkar,

Roles Resources, Writing – review & editing

Affiliation Department of Pediatric Medicine, Diamond Harbour Government Medical College & Hospital, Diamond Harbour, West Bengal, India
⨯
Sujay Ghosh

Roles Conceptualization, Funding acquisition, Investigation, Project administration, Resources, Supervision, Visualization, Writing – original draft, Writing – review & editing

* E-mail: sgzoo@caluniv.ac.in

Affiliation Cytogenetics-Genomics and Down syndrome Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India

https://orcid.org/0000-0003-1703-8446

⨯

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

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

Published: June 26, 2025
https://doi.org/10.1371/journal.pone.0326566

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Down syndrome
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Congenital heart defects
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Medical risk factors
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Ventricular septal defects
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Variant genotypes
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