Cargando…

Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report

Variants in the aristaless-related homeobox (ARX) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting a novel de novo frameshift variant in the ARX gene...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iskandar, Kristy, Herini, Elisabeth S., Triono, Agung, Hadiyanto, Marissa L., Nugrahanto, Andika P., Gunadi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949785/ https://www.ncbi.nlm.nih.gov/pubmed/36845779 http://dx.doi.org/10.1097/MS9.0000000000000197

Ejemplares similares

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
por: Triono, Agung, et al.
Publicado: (2021)

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing
por: Triono, Agung, et al.
Publicado: (2023)

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report
por: Triono, Agung, et al.
Publicado: (2023)

Phylogenetic analysis of congenital rubella virus from Indonesia: a case report
por: Herini, Elisabeth Siti, et al.
Publicado: (2022)

Neurological Manifestations of COVID-19 Associated Multisystem Inflammatory Syndrome in Children (MIS-C) in Yogyakarta, Indonesia
por: Herini, Elisabeth Siti, et al.
Publicado: (2023)

Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy
por: Iskandar, Kristy, et al.
Publicado: (2022)

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine
por: Iskandar, Kristy, et al.
Publicado: (2019)

Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting
por: Iskandar, Kristy, et al.
Publicado: (2019)

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
por: Qiao, Fengchang, et al.
Publicado: (2019)

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?
por: Curie, Aurore, et al.
Publicado: (2018)

Arxes: retrotransposed genes required for adipogenesis
por: Prokesch, Andreas, et al.
Publicado: (2011)

ARx: Reactive Programming for Synchronous Connectors
por: Proença, José, et al.
Publicado: (2020)

Dr. Cral Von Arx Schneider
Publicado: (1917)

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon
por: Wonkam, Ambroise, et al.
Publicado: (2021)

Arsenite Oxidation by a Newly Isolated Betaproteobacterium Possessing arx Genes and Diversity of the arx Gene Cluster in Bacterial Genomes
por: Ospino, Melody Cabrera, et al.
Publicado: (2019)

The Role of ARX in Human Pancreatic Endocrine Specification
por: Gage, Blair K., et al.
Publicado: (2015)

The use of whole-exome sequencing to disentangle complex phenotypes
por: Williams, Hywel J, et al.
Publicado: (2016)

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India
por: Bhatt, Arpan, et al.
Publicado: (2019)

Identification of Arx transcriptional targets in the developing basal forebrain
por: Fulp, Carl T., et al.
Publicado: (2008)

A novel mutation in the OAR domain of the ARX gene
por: Tapie, Alejandra, et al.
Publicado: (2017)

Arx Expression Suppresses Ventralization of the Developing Dorsal Forebrain
por: Lim, Youngshin, et al.
Publicado: (2019)

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing
por: Yang, Mei, et al.
Publicado: (2021)

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
por: Iskandar, Kristy, et al.
Publicado: (2022)

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
por: Robinson, Peter N
Publicado: (2010)

Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases
por: Wang, Linlin, et al.
Publicado: (2019)

Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family
por: Gupta, Shashank, et al.
Publicado: (2017)

Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family
por: Lei, Cheng, et al.
Publicado: (2020)

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype–phenotype correlations in the Chinese population
por: Wu, Yuduo, et al.
Publicado: (2020)

Mutations in ARX Result in Several Defects Involving GABAergic Neurons
por: Friocourt, Gaëlle, et al.
Publicado: (2010)

Redifferentiation of expanded human islet β cells by inhibition of ARX
por: Friedman-Mazursky, Orr, et al.
Publicado: (2016)

Anomalous ellipticity dependence in nonsequential double ionization of ArXe
por: Huang, Cheng, et al.
Publicado: (2018)

Developmental interneuron subtype deficits after targeted loss of Arx
por: Marsh, Eric D., et al.
Publicado: (2016)

Novel ARX mutation identified in infantile spasm syndrome patient
por: Takeshita, Yohei, et al.
Publicado: (2020)

Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD
por: Kleinstein, Sarah E., et al.
Publicado: (2018)

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles
por: Riedhammer, Korbinian Maria, et al.
Publicado: (2017)

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis
por: Long, Xigui, et al.
Publicado: (2018)

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
por: Wang, Zhao-Xia, et al.
Publicado: (2021)

Molecular studies on ARX gene in syndromic and non-syndromic mental retardation
por: Kulkarni, Gayatri, et al.
Publicado: (2014)

Postnatal Arx transcriptional activity regulates functional properties of PV interneurons
por: Joseph, Donald J., et al.
Publicado: (2020)

Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
por: Coromilas, Alexandra, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_f5iepmflacigv63l2ab3tsciaj