Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
Clin Genet. 2020 Jan;97(1):114-124. doi: 10.1111/cge.13615. Epub 2019 Aug 5.
Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic disease, where alterations at different molecular levels are required for the manifestation of the disease. In addition, a wide spectrum of mutations affecting many different genes cause HSCR, although the occurrence and severity of HSCR from many cases still remain unexplained. This review summarizes the current knowledge about molecular genetic basis of HSCR.
先天性巨结肠（HSCR）是一种罕见的先天性疾病，由肠神经嵴细胞迁移、增殖、分化和/或存活失败导致肠神经系统发育异常引起。HSCR 是一种复杂的遗传性疾病，需要在不同的分子水平上发生改变才能表现出疾病。此外，虽然许多病例的 HSCR 发生和严重程度仍然无法解释，但影响许多不同基因的广泛突变会导致 HSCR。本文综述了 HSCR 分子遗传学基础的最新知识。
