ArticleJournal of neurodevelopmental disorders2019
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Article in Journal of neurodevelopmental disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 52 citations in OpenAlex.
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- Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.Journal of clinical medicine · 2025Article
- Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.Developmental neuroscience · 2025Article
- Bridging Genotype to Phenotype inGenes · 2025Review
- CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.Clinical genetics · 2025Article
- Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.Journal of anatomy · 2025Article
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- Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis.Disease models & mechanisms · 2024Article
- Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.Croatian medical journal · 2023Article
- A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Neurogenetics · 2023Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.Journal of personalized medicine · 2023Review
- CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.European journal of human genetics : EJHG · 2023Article
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Science advances · 2023Article
- Identification of Chromatin Regulatory Factors Related to Immunity and Treatment of Alzheimer's Disease.Journal of molecular neuroscience : MN · 2023Article
- Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.Archives of Iranian medicine · 2022Article
- Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.Molecular genetics & genomic medicine · 2022Article
- KMT5B is required for early motor development.Frontiers in genetics · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundRare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID).
methodsExome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language development, or ID according to Human Phenotype Ontology (HPO) terms. All patients had previously undergone whole exome sequencing as part of diagnostic genetic testing with a focus on variants in genes implicated in neurodevelopmental disorders up to January 2017. This resulted in a genetic diagnosis in 1336 of the patients. In this study, we specifically searched for variants in 14 recently implicated novel neurodevelopmental disorder (NDD) genes.
resultsWe identified 65 rare, protein-changing variants in 11 of these 14 novel candidate genes. Fourteen variants in CDK13, CHD4, KCNQ3, KMT5B, TCF20, and ZBTB18 were scored pathogenic or likely pathogenic. Of note, two of these patients had a previously identified cause of their disease, and thus, multiple molecular diagnoses were made including pathogenic/likely pathogenic variants in FOXG1 and CDK13 or in TMEM237 and KMT5B.
conclusionsLooking for pathogenic variants in newly identified NDD genes enabled us to provide a molecular diagnosis to 14 patients and their close relatives and caregivers. This underlines the relevance of re-evaluation of existing exome data on a regular basis to improve the diagnostic yield and serve the needs of our patients.
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