The molecular genetics of hirschsprung's disease

F. Lantieri, P. Griseri, J. Amiel, G. Martucciello, I. Ceccherini, G. Romeo, S. Lyonnet

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Hirschsprung's disease (HSCR), or aganglionic megacolon, is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut. Since it is caused by a premature arrest of the migration of neural crest cells along the hindgut, it is defined also as a neurocristopathy. The variable extent of aganglionosis correlates with severity of the disease, leading to a classification of HSCR into short- and long-segment phenotypes [1, 2]. S-forms include aganglionosis confined below the rectosigmoid junction (80% of patients), while L-forms (20% of patients) can extend below the splenic flexure (colonic forms, 9%), to the whole colon (total colonic aganglionosis, TCA, 5-10%), or up to the whole bowel (total intestinal). The disease is a congenital malformation occurring in 1 in 5,000 live births, with the highest incidence in Asian populations (2.8 in 10,000), intermediate in Afro-Americans (2.1 in 10,000) and Caucasians (1.5 in 10,000) and lowest in Hispanics (1 in 10,000). The male to female ratio is 4:1, and the sex imbalance is particularly evident for S-forms (ranging from 4.2 to 5.5 in S-form and from 1.2 to 1.9 in L-form aganglionosis) [1-3] (Table 5.1).

Original languageEnglish
Title of host publicationHirschsprung's Disease and Allied Disorders
PublisherSpringer Berlin Heidelberg
Pages63-78
Number of pages16
ISBN (Print)9783540339342
DOIs
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Medicine(all)

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    Lantieri, F., Griseri, P., Amiel, J., Martucciello, G., Ceccherini, I., Romeo, G., & Lyonnet, S. (2008). The molecular genetics of hirschsprung's disease. In Hirschsprung's Disease and Allied Disorders (pp. 63-78). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-540-33935-9_5