ArticleAmerican journal of medical genetics. Part A2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 175 citations in OpenAlex.
- Diverse Genetic Etiologies of Unilateral Polymicrogyria.Annals of neurology · 2026Article
- A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.American journal of medical genetics. Part A · 2024Article
- PRDM16 co-operates with LHX2 to shape the human brain.Oxford open neuroscience · 2024Article
- Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.JAMA neurology · 2023Article
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Orphanet journal of rare diseases · 2023Article
- A De Novo Missense Variant inGenes · 2022Article
- Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma.Life science alliance · 2021Article
- Diverse genetic causes of polymicrogyria with epilepsy.Epilepsia · 2021Article
- Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.Acta neuropathologica · 2020Article
- A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.Human molecular genetics · 2020Article
- Article
- A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.Journal of visualized experiments : JoVE · 2017Article
- Genetic Basis of Brain Malformations.Molecular syndromology · 2016Review
- Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.The Lancet. Neurology · 2015Article
- Genes and brain malformations associated with abnormal neuron positioning.Molecular brain · 2015Review
- Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).Journal of human genetics · 2014Article
- Malformations of cortical development: clinical features and genetic causes.The Lancet. Neurology · 2014Review
- Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.Neurogenetics · 2013Article
- Neuropathology of brain and spinal malformations in a case of monosomy 1p36.Acta neuropathologica communications · 2013Article
- Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.European journal of human genetics : EJHG · 2013Article
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Authors and funding
18 authors at 12 institutions in 2 countries.
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Abstract
Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 1p36.3, 2p16.1-p23, 4q21.21-q22.1, 6q26-q27, and 21q21.3-q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.