Cited by 145Fetal and Pediatric Neurological DisordersHedgehog Signaling Pathway StudiesCraniofacial Disorders and Treatments

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Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

Dubourg, Christ�le, Lazaro, Le�la, Pasquier, Laurent, Bendavid, Claude, Blayau, Martine, Duff, Franck Le, Durou, Marie-Ren�e, Odent, Sylvie, David, V�ronique·2004·Human Mutation

DOI 10.1002/humu.20056

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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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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)
ORCID: Pasquier, Laurent
Bendavid, Claude
Duff, Franck Le
Odent, Sylvie
David, V�ronique
Venue: Human Mutation
Publisher: Hindawi Limited
Published: 2004
Volume: 24
Issue: 1
Pages: 43-51
ISSN: 1059-7794 (ISSN-L)
1098-1004
DOI: 10.1002/humu.20056
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
Licence: doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 4261 d)
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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Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

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