인문학
사회과학
자연과학
공학
의약학
농수해양학
예술체육학
복합학
DBpia AI
AI 에이전트
AI 아이디어
AI 리더
AI 뷰어
Citeasy
크롬 서지관리 다운로드
지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
초록·키워드
Abstract 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.
인공지능 문자 인식 모델을 통해 추출된 텍스트로, 일부 오타나 오류가 포함될 수 있으나 지속적으로 개선 중입니다.
오류를 발견하셨다면 해당 부분을 드래그한 후 ' 를 통해 신고해주세요.
오류를 발견하셨다면 해당 부분을 드래그한 후 ' 를 통해 신고해주세요.
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