Cargando…

Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation. This family gave birth to a boy with XLAS who developed hematuria and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Nengqing, Wen, Xiaojun, Ou, Zhanhui, Fang, Xiaowu, Du, Jing, Lin, Xiufeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448762/ https://www.ncbi.nlm.nih.gov/pubmed/37635800 http://dx.doi.org/10.3389/fped.2023.1177019

Ejemplares similares

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome
por: Qian, Pei, et al.
Publicado: (2023)

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
por: Macheroux, Eva Pauline, et al.
Publicado: (2019)

Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation
por: Wen, Xiaojun, et al.
Publicado: (2023)

The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
por: Wang, Fang, et al.
Publicado: (2020)

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency
por: Namba, Masumi, et al.
Publicado: (2021)

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
por: Yamamura, Tomohiko, et al.
Publicado: (2022)

Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome
por: Shi, Wei-Hui, et al.
Publicado: (2021)

Effects of reduced follicle-stimulating hormone dosage before human chorionic gonadotropin trigger on in vitro fertilization outcomes
por: Ou, Zhanhui, et al.
Publicado: (2023)

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X‐linked Alport syndrome
por: Zhang, Yanqin, et al.
Publicado: (2019)

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
por: Kumagai, Naonori, et al.
Publicado: (2022)

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
por: Yamamura, Tomohiko, et al.
Publicado: (2020)

Publisher Correction: Creation of X-linked Alport syndrome rat model with Col4a5 deficiency
por: Namba, Masumi, et al.
Publicado: (2021)

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation
por: Hashikami, Kentarou, et al.
Publicado: (2018)

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
por: Kashiwagi, Yasuyo, et al.
Publicado: (2018)

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome
por: Helle, Ole Magnus Bjorgaas, et al.
Publicado: (2020)

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
por: Gong, Wen-yu, et al.
Publicado: (2021)

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene
por: Wu, Wei-qing, et al.
Publicado: (2023)

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism
por: Zhong, Lijuan, et al.
Publicado: (2023)

A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita
por: Yang, Xiu-Fang, et al.
Publicado: (2022)

Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia
por: Ou, Zhanhui, et al.
Publicado: (2022)

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
por: Horinouchi, Tomoko, et al.
Publicado: (2020)

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome
por: Zhao, Xuechao, et al.
Publicado: (2020)

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome
por: Gibson, Joel T., et al.
Publicado: (2022)

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
por: Savige, Judy, et al.
Publicado: (2022)

Bullous Pemphigoid in X-linked Alport Syndrome
por: Yamawaki, Masahiro, et al.
Publicado: (2022)

The variable course of women with X-linked Alport Syndrome
por: Raju, Priya, et al.
Publicado: (2013)

Phenotypic heterogeneity in females with X-linked Alport syndrome
por: Allred, Samuel C., et al.
Publicado: (2015)

Sporadic Case of Heterozygous X-Linked Alport Syndrome
por: Zuckerman, Jonathan E., et al.
Publicado: (2023)

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
por: Liang, Lei, et al.
Publicado: (2023)

Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family
por: Chen, Xiaolei, et al.
Publicado: (2021)

Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families
por: Wang, Sai, et al.
Publicado: (2022)

COL4A6 is dispensable for autosomal recessive Alport syndrome
por: Murata, Tomohiro, et al.
Publicado: (2016)

Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY
por: Nozu, Kandai, et al.
Publicado: (2014)

Temporal Bone Histopathology of X‐linked Inherited Alport Syndrome
por: Ungar, Omer J., et al.
Publicado: (2018)

A novel missense mutation of COL4A5 gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family
por: Kuang, Xinyu, et al.
Publicado: (2020)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
por: Liu, Jian-Hong, et al.
Publicado: (2017)

Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
por: Wang, Dahai, et al.
Publicado: (2021)

Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report
por: Wang, Ying, et al.
Publicado: (2023)

Improved Non-Invasive Preimplantation Genetic Testing for Beta-Thalassemia Using Spent Embryo Culture Medium Containing Blastocoelic Fluid
por: Ou, Zhanhui, et al.
Publicado: (2022)

Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome
por: Bu, Lihong, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_iqd4l28kgjjjdfh46j99vi3odf