ArticleGenes2021
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- Biallelic variants inResearch square · 2026Article
- The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing.Molecular biology reports · 2026Article
- Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.American journal of human genetics · 2025Article
- Pathogenic variants inmedRxiv : the preprint server for health sciences · 2025Article
- Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.Genome medicine · 2025Article
- Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.Neurogenetics · 2024Article
- Functional analysis of a novel intronic variant ofHeliyon · 2024Article
- Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.Molecular biology reports · 2024Article
- Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.American journal of human genetics · 2023Article
- Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.BMC genomics · 2023Article
- Destabilization of mutated human PUS3 protein causes intellectual disability.Human mutation · 2022Article
Corrections and comments
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Authors and funding
47 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly. This etiological heterogeneity manifests in a clinical variability and presents a major diagnostic and therapeutic challenge, leaving an unacceptably large proportion of over half of microcephaly patients without molecular diagnosis. To elucidate the clinical and genetic landscapes of congenital microcephaly, we sequenced the exomes of 191 clinically diagnosed patients with microcephaly as one of the features. We established a molecular basis for microcephaly in 71 patients (37%), and detected novel variants in five high confidence candidate genes previously unassociated with this condition. We report a large number of patients with mutations in tubulin-related genes in our cohort as well as higher incidence of pathogenic mutations in
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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.