ArticleJournal of medical genetics2010
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 85 citations in OpenAlex.
- ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.American journal of human genetics · 2024Article
- Semilobar Holoprosencephaly Caused by a Novel and De NovoBalkan journal of medical genetics : BJMG · 2023Article
- Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.Children (Basel, Switzerland) · 2023Review
- Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Clinical and neuroimaging review of triplet repeat diseases.Japanese journal of radiology · 2023Review
- NewMolecular syndromology · 2021Article
- Article
- De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf.BMC genomics · 2021Article
- Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.Frontiers in cell and developmental biology · 2021Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.Clinical case reports · 2020Article
- Chemical-Induced Cleft Palate Is Caused and Rescued by Pharmacological Modulation of the Canonical Wnt Signaling Pathway in a Zebrafish Model.Frontiers in cell and developmental biology · 2020Article
- CFrontiers in neurology · 2020Review
- Role of Overexpressed Transcription Factor FOXO1 in Fatal Cardiovascular Septal Defects in Patau Syndrome: Molecular and Therapeutic Strategies.International journal of molecular sciences · 2018Article
- 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
- Importance of complete phenotyping in prenatal whole exome sequencing.Human genetics · 2018Article
- In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis.Developmental biology · 2017Article
- A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.Molecular syndromology · 2014Article
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Authors and funding
41 authors at 20 institutions in 6 countries.
Funding
Abstract
backgroundHoloprosencephaly (HPE), the most common malformation of the human forebrain, may be due to mutations in genes associated with non-syndromic HPE. Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE.
objectiveTo characterise genetic and clinical findings in patients with ZIC2 mutations.
methodsThrough the National Institutes of Health and collaborating centres, DNA from approximately 1200 individuals with HPE spectrum disorders was analysed for sequence variations in ZIC2. Clinical details were examined and all other known cases of mutations in ZIC2 were included through a literature search.
resultsBy direct sequencing of DNA samples of an unselected group of unrelated patients with HPE in our NIH laboratory, ZIC2 mutations were found in 8.4% (49/582) of probands. A total of 157 individuals from 119 unrelated kindreds are described, including 141 patients with intragenic sequence determined mutations in ZIC2. Only 39/157 patients have previously been clinically described. Unlike HPE due to mutations in other genes, most mutations occur de novo and the distribution of HPE types differs significantly from that of non-ZIC2 related HPE. Evidence is presented for the presence of a novel facial phenotype which includes bitemporal narrowing, upslanting palpebral fissures, a short nose with anteverted nares, a broad and well demarcated philtrum, and large ears.
conclusionsHPE due to ZIC2 mutations is distinct from that due to mutations in other genes. This may shed light on the mechanisms involved in formation of the forebrain and face and will help direct genetic counselling and diagnostic strategies.
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