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

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Abstract

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
Volume4
Issue number4
DOIs
Publication statusPublished - 1993

Fingerprint

Hirschsprung Disease
Chromosomes, Human, Pair 10
Genes
Parasympathetic Ganglia
Dominant Genes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Linkage
Neural Crest
Genetic Markers
Microsatellite Repeats
Newborn Infant

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Lyonnet, S., Bolino, A., Pelet, A., Abel, L., Nihoul-Fekete, C., Briard, M. L., ... 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

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

In: Nature Genetics, Vol. 4, No. 4, 1993, p. 346-350.

Research output: Contribution to journalArticle

Lyonnet, S, Bolino, A, Pelet, A, Abel, L, Nihoul-Fekete, C, Briard, ML, 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, vol. 4, no. 4, pp. 346-350. https://doi.org/10.1038/ng0893-346
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. / A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. In: Nature Genetics. 1993 ; Vol. 4, No. 4. pp. 346-350.
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AU - Briard, M. L.

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AU - Lerone, M.

AU - Puliti, A.

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AU - Munnich, A.

AU - Romeo, G.

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