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Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
Abstract
Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial dominant autosomic HPE. The disease is genetically heterogeneous, but additional environmental agents also contribute to the etiology of HPE. In our cohort of 200 patients, 34 heterozygous mutations were identified, 24 of them being novel ones: 13 out of 17 in the Sonic hedgehog gene (SHH); 4 out of 7 in ZIC2; and 7 out of 8 in SIX3. The two mutations identified in TGIF have already been reported. Novel phenotypes associated with a mutation have been described, such as abnormalities of the pituitary gland and corpus callosum, colobomatous microphthalmia, choanal aperture stenosis, and isolated cleft lip. This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in HPE families, and the difficulty to establish genotype-phenotype correlations.
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“Similarly, two genes associated with abnormal cortical development in holoprosencephaly, TGIF1 and SIX327, are also enriched in cortical germinal zones.”
From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [27]
In the citing paper
“Similarly, two genes associated with abnormal cortical development in holoprosencephaly, TGIF1 and SIX327, are also enriched in cortical germinal zones.”
From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [27]
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Transcriptional landscape of the prenatal human brain
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Metadata
- Authors
- Dubourg, C., Lazaro, L., Pasquier, L., Bendavid, C., Blayau, M., Duff, F. L., Durou, M.-R., Odent, S., & David, V.
- Affiliations
- Hôpital Pontchaillou (FR)
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2004
- Volume
- 24
- Issue
- 1
- Pages
- 43-51
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2083467596
- Cited by
- 145
- References
- 33
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 4 · 2023: 1 · 2022: 2 · 2021: 9 · 2020: 6 · 2019: 6 · 2018: 4 · 2017: 8 · 2016: 2 · 2015: 4 · 2014: 5 · 2013: 5 · 2012: 8
- FWCI
- 11.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
- Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
- Keywords
- holoprosencephaly, Sonic hedgehog, ZIC2, Six3, TGIF, novel mutations, genotype-phenotype correlation, genetic heterogeneity, cyclopia, pituitary abnormalities, corpus callosum, choanal stenosis, cleft lip, brain malformations, molecular screening
- MeSH terms
- Homeobox Protein SIX3, Adult, Child, Child, Preschool, Chromosome Deletion, DNA Mutational Analysis, Exons, Eye Proteins, Female, Fetal Diseases, Genotype, Humans, Infant, Infant, Newborn, Male, Mutation, Nerve Tissue Proteins, Nuclear Proteins, Phenotype, Pregnancy, Pregnancy Outcome, Repressor Proteins, Transcription Factors, Cohort Studies, Trans-Activators, Holoprosencephaly, Codon, Nonsense, Homeodomain Proteins, Genetic Heterogeneity, Hedgehog Proteins
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