Cargando…

A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

Mutations in the COL4A3 gene are frequently reported to be associated with various types of hereditary nephropathy. COL4A3 encodes the α3 chain of type IV collagen, which is the main structural protein in the basement membrane. Mutations in this gene are always related to kidney performance, and dea...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xia, Liang, Cao, Yangjia, Guo, Yang, Ba, Guangyi, Luo, Qiong, Shi, Haibo, Feng, Yanmei, Yin, Shankai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387717/ https://www.ncbi.nlm.nih.gov/pubmed/30881523 http://dx.doi.org/10.1155/2019/8705989

Ejemplares similares

A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State
por: Yang, Cheng, et al.
Publicado: (2019)

Identification of COL4A4 variants in Chinese patients with familial hematuria
por: Gao, Yanan, et al.
Publicado: (2023)

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease
por: Fan, Liang‐Liang, et al.
Publicado: (2020)

Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family
por: Du, Ran, et al.
Publicado: (2022)

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report
por: Bao, Mengxin, et al.
Publicado: (2019)

A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia
por: Wu, Rui, et al.
Publicado: (2023)

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis
por: Wu, Yuan, et al.
Publicado: (2016)

Phenotypic and genotypic peculiarities in Chinese patients with Leigh syndrome
por: Finsterer, Josef
Publicado: (2019)

Response to COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis
por: Gbadegesin, Rasheed A
Publicado: (2015)

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members
por: Zhu, Fengming, 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)

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
por: Kong, Lingchi, et al.
Publicado: (2019)

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis
por: Braunisch, Matthias C., et al.
Publicado: (2018)

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report
por: Chen, Ji-Yu, et al.
Publicado: (2021)

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
por: Voskarides, Konstantinos, et al.
Publicado: (2018)

Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?
por: Savige, Judy
Publicado: (2018)

Prevalence of High Jugular Bulb across Different Stages of Adulthood in A Chinese Population
por: Wang, Jingjing, et al.
Publicado: (2020)

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
por: Su, Ying, et al.
Publicado: (2023)

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family
por: Chen, Jing, et al.
Publicado: (2022)

Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome
por: Wang, Dongdong, et al.
Publicado: (2019)

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
por: Colombo, Elisa Adele, et al.
Publicado: (2016)

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome
por: Wang, Xun, et al.
Publicado: (2016)

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists
por: Imafuku, Aya, et al.
Publicado: (2020)

Malignant hypertension and nephrotic range proteinuria without hematuria: IgA nephropathy
por: Goswami, R. P., et al.
Publicado: (2013)

Hematuria without chyluria: It could still be due to filarial etiology
por: Nag, Vijaya Lakshmi, et al.
Publicado: (2016)

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

MON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype
por: Bakhach, Marwan, et al.
Publicado: (2019)

Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family
por: Wang, Yu, et al.
Publicado: (2022)

A Review on Hematuria in Children
por: Halachmi, Sarel, et al.
Publicado: (2006)

A Challenging Diagnosis of Hematuria
por: Erbay, Fatih, et al.
Publicado: (2022)

Familial hematuria
por: Kashtan, Clifford E.
Publicado: (2009)

Malarial Hematuria
por: Kilpatrick, J. J.
Publicado: (1895)

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing
por: Papazachariou, Louiza, et al.
Publicado: (2014)

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
por: Hu, Yanglin, et al.
Publicado: (2022)

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
por: Aftab, S A S, et al.
Publicado: (2013)

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
por: Takagi, Masaki, et al.
Publicado: (2014)

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
por: Lindert, U., et al.
Publicado: (2017)

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome
por: Jacinto, Joana G. P., et al.
Publicado: (2020)

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye
por: Pölsler, Laura, et al.
Publicado: (2020)

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
por: Patel, Heerali, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_n6927cecd61hpecs0l3alvsjq5