A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

S. Lyonnet, A. Bolino, A. Pelet, L. Abel, C. Nihoul-Fekete, M. L. Briard, V. Mok- Siu, H. Kaariainen, G. Martucciello, M. Lerone, A. Puliti, Y. Luo, J. Weissenbach, M. Devoto, A. Munnich, G. Romeo

Research output: Contribution to journalArticle


Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and of a high-density genetic map of microsatellite DNA markers, we performed genetic linkage analysis in 15 non-syndromic long- segment and short-segment HSCR families. Multipoint linkage analysis indicated that the most likely location for a HSCR locus is between loci D10S208 and D10S196, suggesting that a dominant gene for HSCR maps to 10q11.2, a region to which other neural crest defects have been mapped.

Original languageEnglish
Pages (from-to)346-350
Number of pages5
JournalNature Genetics
Issue number4
Publication statusPublished - 1993


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Lyonnet, S., Bolino, A., Pelet, A., Abel, L., Nihoul-Fekete, C., Briard, M. L., Mok- Siu, V., Kaariainen, H., Martucciello, G., Lerone, M., Puliti, A., Luo, Y., Weissenbach, J., Devoto, M., Munnich, A., & Romeo, G. (1993). A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genetics, 4(4), 346-350. https://doi.org/10.1038/ng0893-346