Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
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DOI: 10.1002/humu.24332
Abstract: PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss‐of‐function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder… read more here.
Keywords: neurodevelopmental syndrome; pax5 haploinsufficiency; delineation novel; syndrome associated ... See more keywords
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
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DOI: 10.1002/humu.24435
Abstract: Aminoacyl‐tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominant or… read more here.
Keywords: wars1 cause; wars1; neurodevelopmental syndrome; biallelic variants ... See more keywords
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2022.03.002
Abstract: Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell… read more here.
Keywords: neurodevelopmental syndrome; fbxw7; tumor suppressor; syndrome ... See more keywords
Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
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DOI: 10.1038/hgv.2018.11
Abstract: We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and… read more here.
Keywords: neurodevelopmental syndrome; chung neurodevelopmental; okur chung;
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
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DOI: 10.1038/s41588-021-00886-z
Abstract: SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe,… read more here.
Keywords: sptbn1 variants; variants cause; pathogenic sptbn1; cause autosomal ... See more keywords
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of medical genetics"
DOI: 10.1136/jmedgenet-2021-108375
Abstract: BACKGROUND A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. METHODS… read more here.
Keywords: clinical genetic; neurodevelopmental syndrome; sox4; hmg domain ... See more keywords
Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?
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DOI: 10.3389/fmolb.2022.850559
Abstract: In recent years, variants in the catalytic and regulatory subunits of the kinase CK2 have been found to underlie two different, yet symptomatically overlapping neurodevelopmental disorders, termed Okur-Chung neurodevelopmental syndrome (OCNDS) and Poirier-Bienvenu neurodevelopmental syndrome… read more here.
Keywords: neurodevelopmental disorders; neurodevelopmental syndrome; poirier bienvenu; okur chung ... See more keywords
The Okur-Chung Neurodevelopmental Syndrome Mutation CK2K198R Leads to a Rewiring of Kinase Specificity
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DOI: 10.3389/fmolb.2022.850661
Abstract: Okur-Chung Neurodevelopmental Syndrome (OCNDS) is caused by heterozygous mutations to the CSNK2A1 gene, which encodes the alpha subunit of protein kinase CK2. The most frequently occurring mutation is lysine 198 to arginine (K198R). To investigate… read more here.
Keywords: neurodevelopmental syndrome; okur chung; specificity; mutation ... See more keywords
De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome
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DOI: 10.3389/fneur.2022.811092
Abstract: The Poirier–Bienvenu neurodevelopmental syndrome is an autosomal dominant disorder characterized by intellectual disability and epilepsy. The disease is caused by mutations in the CSNK2B gene, which encodes the beta subunit of casein kinase II, and… read more here.
Keywords: neurodevelopmental syndrome; poirier bienvenu; csnk2b mutations; bienvenu neurodevelopmental ... See more keywords