Cargando…

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. In this report, we present a case study of a 6-year-old female patient manifesting seizures, tetany, hypopara...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tao, Yilun, Yang, Lin, Han, Dong, Zhao, Chen, Song, Wenxia, Wang, Haiwei, Li, Xiaoze, Wang, Lihong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485837/ https://www.ncbi.nlm.nih.gov/pubmed/37693317 http://dx.doi.org/10.3389/fgene.2023.1254556

Ejemplares similares

Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2
por: Tao, Yilun, et al.
Publicado: (2021)

Novel splice site mutation in GATA3 in a patient with HDR syndrome
por: Matsuo, Kumihiro, et al.
Publicado: (2017)

Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal Testing
por: Chen, Liheng, et al.
Publicado: (2022)

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
por: Martins, Fábio Tadeu Arrojo, et al.
Publicado: (2018)

Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
por: Tao, Yilun, et al.
Publicado: (2023)

Methodologies for Improving HDR Efficiency
por: Liu, Mingjie, et al.
Publicado: (2019)

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
por: Kusakawa, Moe, et al.
Publicado: (2019)

SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome
por: Cruz-Aviles, Lisa Michelle, et al.
Publicado: (2020)

Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome
por: El-Assaad, Atlal, et al.
Publicado: (2021)

Myelodysplastic Syndrome-Associated SRSF2 Mutations Cause Splicing Changes by Altering Binding Motif Sequences
por: Masaki, So, et al.
Publicado: (2019)

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
por: Yang, Aram, et al.
Publicado: (2017)

De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
por: Liu, Shan, et al.
Publicado: (2023)

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing
por: Fan, Lihong, et al.
Publicado: (2022)

Incorrect predictions, not incorrect statistics!
por: Hoff, Reinier G, et al.
Publicado: (2009)

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
por: Balestra, Dario, et al.
Publicado: (2019)

Use of Molecular Genetic Methods to Reduce the Risk of Incorrect Identification of Fish Strains in Brazilian Aquaculture
por: Deoclécio da Silva, Luana Maria, et al.
Publicado: (2021)

Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness
por: Chen, Penghui, et al.
Publicado: (2021)

hGATA1 Under the Control of a μLCR/β-Globin Promoter Rescues the Erythroid but Not the Megakaryocytic Phenotype Induced by the Gata1 ( low ) Mutation in Mice
por: Martelli, Fabrizio, et al.
Publicado: (2021)

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
por: Gonçalves, Catarina I., et al.
Publicado: (2023)

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency
por: Chen, Shan, et al.
Publicado: (2022)

Guidelines for Fluorescent Guided Biallelic HDR Targeting Selection With PiggyBac System Removal for Gene Editing
por: Jarazo, Javier, et al.
Publicado: (2019)

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
por: Okawa, Tetsuji, et al.
Publicado: (2015)

Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene
por: Kamezaki, Michitsugu, et al.
Publicado: (2017)

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation
por: Yan, Kai, et al.
Publicado: (2022)

Segawa syndrome caused by TH gene mutation and its mechanism
por: Wang, Yilin, et al.
Publicado: (2022)

Case Report: A Chinese Family of Hypertrophic Cardiomyopathy Caused by a Novel Splicing Mutation in the FLNC Gene
por: Huang, Chunhui, et al.
Publicado: (2022)

Incorrect Equations
Publicado: (2014)

An Incorrect Statement
por: Gorgas, Ferdinand J. S.
Publicado: (1889)

Incorrect Affiliation
Publicado: (2019)

Incorrect Address
Publicado: (2022)

Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
por: Chen, Yiyao, et al.
Publicado: (2020)

Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
por: Huang, Yunhua, et al.
Publicado: (2023)

Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
por: Wang, Jiaxiong, et al.
Publicado: (2022)

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
por: da Palma, Mariana Matioli, et al.
Publicado: (2020)

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases
por: Qian, Xinye, et al.
Publicado: (2021)

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome
por: Shi, Jie, et al.
Publicado: (2023)

Alternative Splicing Events and Splicing Factors Are Prognostic in Adrenocortical Carcinoma
por: Lv, Jian, et al.
Publicado: (2020)

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
por: Chen, Min, et al.
Publicado: (2022)

A Missense Mutation rs781536408 (c.2395G>A) of TYK2 Affects Splicing and Causes Skipping of Exon18 in vivo
por: Chen, Suqing, et al.
Publicado: (2021)

MultiGATAE: A Novel Cancer Subtype Identification Method Based on Multi-Omics and Attention Mechanism
por: Zhang, Ge, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bc9j8om9iebvahsen83pq22qp8