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Background <p>Hirschsprung (HSCR) disease is a congenital neurocristopathy due to an abnormality in the migration and differentiation of neural crest cells to submucosal and myenteric plexuses in the gastrointestinal tract. HSCR usually occurs during the 5th to 12th week of gestation. Its incidence rate is around 1:5000 worldwide. The absence of the enteric nervous system has been identified in the HSCR patients. Our study focused on <i>RET</i> gene variations in Indian children with HSCR disease and its association with phenotype. This study is a cross-sectional study in which a total of (n = 50) patients with HSCR disease of age group from birth to 18&#xa0;years old males and females. <i>RET</i> gene variations testing was done by Sanger sequencing in children with HSCR and pathogenic and other variants are discussed.</p> Results <p>Congenital anomalies other than HSCR were found in approximately 18% of patients. We found the likely pathogenic variant in exon 4 in four patients, of which three had the ‘Rectosigmoid variant’ and one had the ‘Long segment variant’ of HSCR.</p> Conclusions <p>We found the deletion variant in exon 4 of the <i>RET</i> gene in unrelated children with HSCR. The novel variant found was NM_020975.6 (<i>RET</i>):c.838del:p.(Ser280AlafsTer32). The variant was labeled as likely pathogenic and may be a common variant in the North Indian population. As we have studied only two exons in our study, there is a need to study other exons of the <i>RET</i> gene and other implicated genes for a better understanding of the basis of HSCR and establish genotype–phenotype correlations in different populations.</p>

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Characterization and identification of RET gene variations in children with Hirschsprung disease

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  • 发表日期：

    2025年6月20日

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  • Ripudaman Singh,
  • Shalini Dhiman,
  • Inusha Panigrahi,
  • Mahak Garg,
  • J. K. Mahajan

摘要

Background

Hirschsprung (HSCR) disease is a congenital neurocristopathy due to an abnormality in the migration and differentiation of neural crest cells to submucosal and myenteric plexuses in the gastrointestinal tract. HSCR usually occurs during the 5th to 12th week of gestation. Its incidence rate is around 1:5000 worldwide. The absence of the enteric nervous system has been identified in the HSCR patients. Our study focused on RET gene variations in Indian children with HSCR disease and its association with phenotype. This study is a cross-sectional study in which a total of (n = 50) patients with HSCR disease of age group from birth to 18 years old males and females. RET gene variations testing was done by Sanger sequencing in children with HSCR and pathogenic and other variants are discussed.

Results

Congenital anomalies other than HSCR were found in approximately 18% of patients. We found the likely pathogenic variant in exon 4 in four patients, of which three had the ‘Rectosigmoid variant’ and one had the ‘Long segment variant’ of HSCR.

Conclusions

We found the deletion variant in exon 4 of the RET gene in unrelated children with HSCR. The novel variant found was NM_020975.6 (RET):c.838del:p.(Ser280AlafsTer32). The variant was labeled as likely pathogenic and may be a common variant in the North Indian population. As we have studied only two exons in our study, there is a need to study other exons of the RET gene and other implicated genes for a better understanding of the basis of HSCR and establish genotype–phenotype correlations in different populations.