Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz, Fernando Vargas, Stephen W. Scherer, Lap Chee Tsui, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review


Holoprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE, mutations in the Sonic Hedgehog (SHH) gene have been shown to result in an autosomal dominant form of the disorder. Here we describe a total of five different mutations in the processing domain encoded by exon 3 of SHH in familial and sporadic HPE. This is the first instance in humans where SHH mutations in the domain responsible for autocatalytic cleavage and cholesterol modification of the N-terminal signaling domain of the protein have been observed.

Original languageEnglish
Pages (from-to)1847-1853
Number of pages7
JournalHuman Molecular Genetics
Issue number11
Publication statusPublished - Oct 1997

ASJC Scopus subject areas

  • Genetics


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