Cargando…

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

BACKGROUND: Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet...

Descripción completa

Detalles Bibliográficos
Autores principales:	Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, Filippo, Klee, Eric W., Lanpher, Brendan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654171/ https://www.ncbi.nlm.nih.gov/pubmed/33167890 http://dx.doi.org/10.1186/s12881-020-01159-y

Ejemplares similares

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder
por: Schultz‐Rogers, Laura, et al.
Publicado: (2020)

Analysis of trio test in neurodevelopmental disorders
por: Kim, Se Hee, et al.
Publicado: (2022)

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases
por: Blackburn, Patrick R., et al.
Publicado: (2017)

Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants
por: Bircher, Josie E., et al.
Publicado: (2022)

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
por: Gao, Chao, et al.
Publicado: (2019)

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
por: Srivastava, Siddharth, et al.
Publicado: (2021)

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C
por: Macke, Erica L., et al.
Publicado: (2020)

Trio Haploinsufficiency Causes Neurodevelopmental Disease–Associated Deficits
por: Katrancha, Sara Marie, et al.
Publicado: (2019)

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
por: Bowles, Bradley, et al.
Publicado: (2021)

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
por: Barbosa, Sónia, et al.
Publicado: (2020)

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
por: Conboy, Erin, et al.
Publicado: (2017)

Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder
por: Brunet, Theresa, et al.
Publicado: (2020)

Clair3-trio: high-performance Nanopore long-read variant calling in family trios with trio-to-trio deep neural networks
por: Su, Junhao, et al.
Publicado: (2022)

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients
por: Vairo, Filippo Pinto, et al.
Publicado: (2017)

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
por: Kloth, Katja, et al.
Publicado: (2021)

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy
por: Schultz-Rogers, Laura, et al.
Publicado: (2019)

WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders
por: Aldaz, C. Marcelo, et al.
Publicado: (2020)

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants
por: Muthusamy, Karthik, et al.
Publicado: (2021)

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
por: Trinh, Joanne, et al.
Publicado: (2019)

Comparing complex variants in family trios
por: Toptaş, Berke Ç, et al.
Publicado: (2018)

Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders
por: Savova, Virginia, et al.
Publicado: (2017)

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
por: Hengel, Holger, et al.
Publicado: (2021)

TrioVis: a visualization approach for filtering genomic variants of parent–child trios
por: Sakai, Ryo, et al.
Publicado: (2013)

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease
por: Pinto e Vairo, Filippo, et al.
Publicado: (2018)

Functional characterization of TBR1 variants in neurodevelopmental disorder
por: den Hoed, Joery, et al.
Publicado: (2018)

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
por: Gracia-Diaz, Carolina, et al.
Publicado: (2023)

Comparison of GATK and DeepVariant by trio sequencing
por: Lin, Yi-Lin, et al.
Publicado: (2022)

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
por: Lin, Sheng-Jia, et al.
Publicado: (2021)

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders
por: Rossi, Joseph J., et al.
Publicado: (2021)

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
por: Baladron, Beatriz, et al.
Publicado: (2022)

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder
por: Estruch, Sara B., et al.
Publicado: (2016)

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
por: Wilke, Matheus V. M. B., et al.
Publicado: (2022)

Trío /
por: Garibay, Ricardo
Publicado: (1993)

The trio
Publicado: (1997)

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
por: Cousin, Margot A., et al.
Publicado: (2021)

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
por: Kour, Sukhleen, et al.
Publicado: (2021)

geck: trio-based comparative benchmarking of variant calls
por: Kómár, Péter, et al.
Publicado: (2018)

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
por: Singh, Sakshi, et al.
Publicado: (2020)

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
por: Rosenhahn, Erik, et al.
Publicado: (2022)

Trio. Remenbranzas
por: Dorantes, Edgar

Cannot write session to /tmp/vufind_sessions/sess_k1ddrjjmolumpovk0qb77dtq54