Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

Fernando R. Vargas, Erich Roessler, Karin Gaudenz, Elena Belloni, Alexander S. Whitehead, Peader N. Kirke, James L. Mills, George Hooper, Roger E. Stevenson, Isabel Cordeiro, Patricia Correia, Temis Felix, Rani Gereige, Michael L. Cunningham, Sonia Canún, Stylianos E. Antonarakis, Tom Strachan, Lap Chee Tsui, Stephen W. Scherer, Maximilian Muenke

Research output: Contribution to journalArticle

Abstract

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.

Original languageEnglish
Pages (from-to)387-392
Number of pages6
JournalHuman Genetics
Volume102
Issue number4
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Vargas, F. R., Roessler, E., Gaudenz, K., Belloni, E., Whitehead, A. S., Kirke, P. N., Mills, J. L., Hooper, G., Stevenson, R. E., Cordeiro, I., Correia, P., Felix, T., Gereige, R., Cunningham, M. L., Canún, S., Antonarakis, S. E., Strachan, T., Tsui, L. C., Scherer, S. W., & Muenke, M. (1998). Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Human Genetics, 102(4), 387-392. https://doi.org/10.1007/s004390050709