Phenotypic and molecular variability of the holoprosencephalic spectrum
- 15 July 2004
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 129A (1) , 21-24
- https://doi.org/10.1002/ajmg.a.30110
Abstract
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.Keywords
This publication has 19 references indexed in Scilit:
- The hedgehog signaling networkAmerican Journal of Medical Genetics Part A, 2003
- A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defectsHuman Genetics, 2002
- Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombinationHuman Molecular Genetics, 2001
- Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationNature Genetics, 2000
- Genomic Cloning and Characterization of the Human Homeobox Gene SIX6 Reveals a Cluster of SIX Genes in Chromosome 14 and Associates SIX6 Hemizygosity with Bilateral Anophthalmia and Pituitary AnomaliesGenomics, 1999
- Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephalyNature Genetics, 1996
- The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformationsTeratology, 1981
- HoloprosencephalyArchives of Pediatrics & Adolescent Medicine, 1974
- Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.Journal of Medical Genetics, 1971
- Clinical and Neuropathological Investigations of Four Cases of Holoprosencephaly with ArhinencephalyNeuropediatrics, 1970