The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
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]
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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]
Citations
Cites
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
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Sonic hedgehog regulates the growth and patterning of the cerebellum
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Nomenclature for the description of human sequence variations
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A Smad Transcriptional Corepressor
Wotton, D., Lo, R. S., Lee, S., & Massagué, J. (1999) · Cell · doi:10.1016/s0092-8674(00)80712-6 · Cited by 554
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
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The HUGO Gene Nomenclature Committee (HGNC)
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Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling
Sampath, K., Rubinstein, A. L., Cheng, A. M. S., Liang, J. O., Fekany-Lee, K., Solnica‐Krezel, L., Korzh, V. P., Halpern, M. E., & Wright, C. V. E. (1998) · Nature · doi:10.1038/26020 · Cited by 457
Research works printed but not linked: 1
- Ouspenskaia, 2002, Am J Hum Genet, 71, 313
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Transcriptional landscape of the prenatal human brain
Miller, J. A., Ding, S.-L., Sunkin, S. M., Smith, K. A., Ng, L., Szafer, A., Ebbert, A., Riley, Z. L., Royall, J. J., Aiona, K., et al. (2014) · Nature · doi:10.1038/nature13185 · Cited by 1,325
Dubourg, C., Bendavid, C., Pasquier, L., Henry, C., Odent, S., & David, V. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-8 · Cited by 355
Self-citationThe molecular genetics of holoprosencephaly
Roessler, E., & Muenke, M. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30236 · Cited by 257
Bakrania, P., Efthymiou, M., Klein, J. C., Salt, A., Bunyan, D. J., Wyatt, A., Ponting, C. P., Martin, A., Williams, S., Lindley, V., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.023 · Cited by 241
Shaffer, L. G., Theisen, A. P., Bejjani, B. A., Ballif, B. C., Aylsworth, A. S., Lim, C., McDonald, M., Ellison, J. W., Kostiner, D. R., Saitta, S. C., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e3181484b49 · Cited by 200
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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