Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene

Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene

NARS1-related neurodevelopmental disorder is caused by pathogenic variants in the NARS1 gene. The aim of the present study was to determine the genetic reason for the epilepsy and microcephaly, observed in the tested patient. Using whole exome sequencing two novel heterozygous variants c.676G>C,...

Full description

Bibliographic Details
Main Authors:	Atemin S., Todorov T., Tourtourikov I., Mitev V., Todorova A.
Format:	Article
Language:	English
Published:	Sciendo 2022-06-01
Series:	Acta Medica Bulgarica
Subjects:	nars1 gene novel variants whole exome sequencing epilepsy
Online Access:	https://doi.org/10.2478/amb-2022-0020

Similar Items

EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
by: Sleptsova M, et al.
Published: (2024-03-01)

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
by: Chunli Wang, et al.
Published: (2023-07-01)

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish
by: Muhammad Umair, et al.
Published: (2021-10-01)

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant
by: Qi Yang, et al.
Published: (2024-03-01)

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities
by: Hua Wang, et al.
Published: (2022-04-01)

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies
by: Fei Song, et al.
Published: (2021-08-01)

Whole-exome sequencing of patients with juvenile myoclonic epilepsy
by: E. E. Timechko, et al.
Published: (2022-10-01)

Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia
by: Lin Zhou, et al.
Published: (2023-11-01)

A novel variant in NSUN2 causes intellectual disability in a Chinese family
by: Qi Yang, et al.
Published: (2024-04-01)

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene
by: Shu Liu, et al.
Published: (2022-03-01)

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
by: Shasha Long, et al.
Published: (2019-05-01)

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients
by: Jitao Zhu, et al.
Published: (2023-03-01)

Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly
by: T. Batool, et al.
Published: (2021-08-01)

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
by: Kouhei Den, et al.
Published: (2019-10-01)

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders
by: Robin-Tobias Jauss, et al.
Published: (2022-12-01)

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
by: Jing Wang, et al.
Published: (2022-05-01)

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder
by: Hong Zheng, et al.
Published: (2022-11-01)

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes
by: Ioannis Zaganas, et al.
Published: (2021-01-01)

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
by: Yi Dong, et al.
Published: (2023-10-01)

Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations
by: Wenjing Hu, et al.
Published: (2022-12-01)

Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout
by: Yong Guo, et al.
Published: (2022-03-01)

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7
by: Cheng Huang, et al.
Published: (2023-12-01)

Corrigendum: Whole-exome sequencing identifies a novel CPT2 mutation in a pedigree with gout
by: Yong Guo, et al.
Published: (2022-08-01)

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
by: Hongjun Fei, et al.
Published: (2022-03-01)

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
by: Mahsa Sadat Asl Mohajeri, et al.
Published: (2021-07-01)

Association of Homozygous <em>PROP1</em> Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
by: Ahmed M. Almatrafi, et al.
Published: (2023-02-01)

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
by: Tayyaba Afsar, et al.
Published: (2024-01-01)

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies
by: Eglė Preikšaitienė, et al.
Published: (2016-07-01)

ARIMA and NAR based prediction model for time series analysis of COVID-19 cases in India
by: Farhan Mohammad Khan, et al.
Published: (2020-09-01)

A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly
by: Muhammad Umair, et al.
Published: (2021-10-01)

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
by: Marketa Wayhelova, et al.
Published: (2024-02-01)

Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families
by: Yan-Shan Hu, et al.
Published: (2019-06-01)

Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene
by: Tao Zhang, et al.
Published: (2023-08-01)

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
by: Katherine Johnson, et al.
Published: (2017-11-01)

A Novel <i>ARMC5</i> Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing
by: Maryam Eghbali, et al.
Published: (2022-12-01)

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in <i>RBM10</i>
by: Marta Owczarek-Lipska, et al.
Published: (2022-11-01)

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report
by: Tiange Li, et al.
Published: (2023-06-01)

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
by: Qi Yang, et al.
Published: (2022-03-01)

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
by: Hui Tang, et al.
Published: (2021-03-01)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
by: Shaomin Wu, et al.
Published: (2022-01-01)