Phenotypic and molecular variability of the holoprosencephalic spectrum
Article first published online: 25 MAY 2004
Copyright © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 129A, Issue 1, pages 21–24, 15 August 2004
How to Cite
Lazaro, L., Dubourg, C., Pasquier, L., Duff, F. L., Blayau, M., Durou, M.-R., Pintière, A. T. d. l., Aguilella, C., David, V. and Odent, S. (2004), Phenotypic and molecular variability of the holoprosencephalic spectrum. Am. J. Med. Genet., 129A: 21–24. doi: 10.1002/ajmg.a.30110
- Issue published online: 15 JUL 2004
- Article first published online: 25 MAY 2004
- Manuscript Accepted: 3 DEC 2003
- Manuscript Received: 13 MAR 2003
- midline defect;
Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among 173 subjects in the molecular study, 28 heterozygous mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations. © 2004 Wiley-Liss, Inc.