ArticleJournal of medical genetics2011
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Syndromes associated with holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Pooled it
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- CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.Journal of applied genetics · 2021Article
- NewMolecular syndromology · 2021Article
- Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.Birth defects research · 2021Article
- Compound heterozygous splicing CDON variants result in isolated ocular coloboma.Clinical genetics · 2020Article
- Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report.Veterinary medicine and science · 2020Article
- Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.Clinical case reports · 2020Article
- The level of zinc finger of the cerebellum 2 is predictive of overall survival in clear cell renal cell carcinoma.Translational andrology and urology · 2020Article
- Developmental Genes and Malformations in the Hypothalamus.Frontiers in neuroanatomy · 2020Review
- Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.European journal of human genetics : EJHG · 2019Article
- Hedgehog Signaling and Embryonic Craniofacial Disorders.Journal of developmental biology · 2019Review
- Genomic analyses in African populations identify novel risk loci for cleft palate.Human molecular genetics · 2019Article
- Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.Medicine · 2019Article
- A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.Scientific reports · 2018Article
- Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Review
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHoloprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon.
methodsA large European series of 645 HPE probands (and 699 relatives), consisting of 51% fetuses and 49% liveborn children, is reported.
resultsMutations in the four main genes involved in HPE (SHH, ZIC2, SIX3, TGIF) were identified in 25% of cases. The SHH, SIX3, and TGIF mutations were inherited in more than 70% of these cases, whereas 70% of the mutations in ZIC2 occurred de novo. Moreover, rearrangements were detected in 22% of the 260 patients screened by array comparative genomic hybridisation. 15 probands had two mutations providing additional support for the 'multiple-hit process' in HPE. There was a positive correlation between the severity of the brain malformation and facial features for SHH, SIX3, and TGIF, but no such correlation was found for ZIC2 mutations. The most severe HPE types were associated with SIX3 and ZIC2 mutations, whereas microforms were associated with SHH mutations. The study focused on the associated brain malformations, including neuronal migration defects, which predominated in individuals with ZIC2 mutations, and neural tube defects, which were frequently associated with ZIC2 (rachischisis) and TGIF mutations. Extracraniofacial features were observed in 27% of the individuals in this series (up to 40% of those with ZIC2 mutations) and a significant correlation was found between renal/urinary defects and mutations of SHH and ZIC2.
conclusionsAn algorithm is proposed based on these new phenotype-genotype correlations, to facilitate molecular analysis and genetic counselling for HPE.
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