Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly |
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Authors: | Roessler E; Belloni E; Gaudenz K; Vargas F; Scherer SW; Tsui LC; Muenke M |
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Institution: | Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, University of Pennsylvania School of Medicine, Philadelphia 19104-4399, USA. |
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Abstract: | 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.
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