ArticleOmics : a journal of integrative biology2017
Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Article in Omics : a journal of integrative biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).European journal of human genetics : EJHG · 2025Article
- Brain O-GlcNAcylation: Bridging physiological functions, disease mechanisms, and therapeutic applications.Molecular psychiatry · 2025Review
- Prenatal diagnosis using next-generation sequencing in genetic counseling: Novel mutations in three large Iranian families: A case series.International journal of reproductive biomedicine · 2025Article
- RettDb: the Rett syndrome omics database to navigate the Rett syndrome genomic landscape.Database : the journal of biological databases and curation · 2024Article
- Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.Journal of human genetics · 2023Article
- Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.Acta neurologica Belgica · 2023Article
- Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.Neural development · 2023Article
- Diverse Clinical Phenotypes ofGenes · 2023Review
- Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis.Omics : a journal of integrative biology · 2023Article
- Diagnosis potential of subarachnoid hemorrhage using miRNA signatures isolated from plasma-derived extracellular vesicles.Frontiers in pharmacology · 2023Article
- The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.Frontiers in neuroscience · 2023Review
- A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Italian journal of pediatrics · 2022Article
- Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.Journal of molecular neuroscience : MN · 2021Article
- A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.The American journal of case reports · 2021Article
- X-chromosome variants are associated with aldosterone producing adenomas.Scientific reports · 2021Article
- Article
- A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.Journal of molecular neuroscience : MN · 2020Article
- KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.BMC medical genetics · 2020Review
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19 authors.
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Abstract
Robust diagnostics for many human genetic disorders are much needed in the pursuit of global personalized medicine. Next-generation sequencing now offers new promise for biomarker and diagnostic discovery, in developed as well as resource-limited countries. In this broader global health context, X-linked intellectual disability (XLID) is an inherited genetic disorder that is associated with a range of phenotypes impacting societies in both developed and developing countries. Although intellectual disability arises due to diverse causes, a substantial proportion is caused by genomic alterations. Studies have identified causal XLID genomic alterations in more than 100 protein-coding genes located on the X-chromosome. However, the causes for a substantial number of intellectual disability and associated phenotypes still remain unknown. Identification of causative genes and novel mutations will help in early diagnosis as well as genetic counseling of families. Advent of next-generation sequencing methods has accelerated the discovery of new genes involved in mental health disorders. In this study, we analyzed the exomes of three families from India with nonsyndromic XLID comprising seven affected individuals. The affected individuals had varying degrees of intellectual disability, microcephaly, and delayed motor and language milestones. We identified potential causal variants in three XLID genes, including PAK3 (V294M), CASK (complex structural variant), and MECP2 (P354T). Our findings reported in this study extend the spectrum of mutations and phenotypes associated with XLID, and calls for further studies of intellectual disability and mental health disorders with use of next-generation sequencing technologies.
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