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Background <p>Atrial Septal Defects (ASD) are second most common Congenital Heart Defects (CHD), characterized by abnormal communication between atria of the heart. Genetic analyses of familial and sporadic forms of ASD suggest a multigenic basis. Presented study summarizes findings from genome-wide genotyping analysis in ASD cases from Indian population.</p> Methods <p>12 non-syndromic ASD cases were confirmed by echocardiography (ECHO) and discharge summaries. DNA extracted from peripheral blood was subjected to genome-wide genotyping assay using Axiom™ Asia Precision Medicine Research Array with over 750,000 markers. Variant prioritization was performed using CADD scores along with location, allele frequency, functional impactand prediction scores. Clinical phenotypes were mapped to HPO terms for refined genotype-phenotype correlation.</p> Result <p>16 genetic variants including 9 pathogenic, 5 likely pathogenic and 2 Variants of Unknown Significance (VUS) were observed. Heterozygous <i>PKP2</i> variant rs762753884 (Chr12:32974457 G &gt; A) was identified in all cases. <i>TNNT2</i> variant rs397516469(Chr1:201332519 G &gt; A) and <i>MYBPC3</i> variant rs863224899 (Chr11:47359131&#xa0;C &gt; T) were found in 11 cases in heterozygous state. Additonal heterozygous pathogenic variants in <i>DSP</i>, <i>ABCC9</i>, <i>TTN</i>, <i>MYH7</i>, <i>RBM20</i> and likely pathogenic variants in <i>SCN5A</i>, <i>RERE</i>, <i>GATA4</i>,<i> TBX5</i> and <i>MYBPC3</i> were observed in a subset of cases.</p> Conclusion <p>This study highlights the polygenic basis of non-syndromic ASD in sporadic cases from the Indian population. Parental segregation analysis may further elucidate cumulative genetic risk and potential unrecognized familial predisposition.</p>

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“Microarray Profiling of Genetic Variants in Patients with Atrial Septal Defect from Indian population: A Case Series Report”

  • 期刊论文

  • 发表日期：

    2026年5月1日

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  • Radha Joshi,
  • Prabhatha Rashmi Murthy,
  • Shaoni Nath,
  • Poonam Mandhare,
  • Ruchira Menghal,
  • Rashmi Sukumaran,
  • Moinak Banerjee

摘要

Background

Atrial Septal Defects (ASD) are second most common Congenital Heart Defects (CHD), characterized by abnormal communication between atria of the heart. Genetic analyses of familial and sporadic forms of ASD suggest a multigenic basis. Presented study summarizes findings from genome-wide genotyping analysis in ASD cases from Indian population.

Methods

12 non-syndromic ASD cases were confirmed by echocardiography (ECHO) and discharge summaries. DNA extracted from peripheral blood was subjected to genome-wide genotyping assay using Axiom™ Asia Precision Medicine Research Array with over 750,000 markers. Variant prioritization was performed using CADD scores along with location, allele frequency, functional impactand prediction scores. Clinical phenotypes were mapped to HPO terms for refined genotype-phenotype correlation.

Result

16 genetic variants including 9 pathogenic, 5 likely pathogenic and 2 Variants of Unknown Significance (VUS) were observed. Heterozygous PKP2 variant rs762753884 (Chr12:32974457 G > A) was identified in all cases. TNNT2 variant rs397516469(Chr1:201332519 G > A) and MYBPC3 variant rs863224899 (Chr11:47359131 C > T) were found in 11 cases in heterozygous state. Additonal heterozygous pathogenic variants in DSP, ABCC9, TTN, MYH7, RBM20 and likely pathogenic variants in SCN5A, RERE, GATA4, TBX5 and MYBPC3 were observed in a subset of cases.

Conclusion

This study highlights the polygenic basis of non-syndromic ASD in sporadic cases from the Indian population. Parental segregation analysis may further elucidate cumulative genetic risk and potential unrecognized familial predisposition.