Cargando…

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report

RATIONALE: Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities. PATIENT CONCERNS: A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria. DIAGNOSES: Combined with clinical manifestatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Ji-Yu, Cui, Jing-Jing, Yang, Xi-Ran, Li, Yan-Fang, Zhang, Yan-Hua, Chen, Jia-Ni, Lin, Jun-Yu, Zhao, Bo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615339/ https://www.ncbi.nlm.nih.gov/pubmed/34964757 http://dx.doi.org/10.1097/MD.0000000000027890

Ejemplares similares

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

New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report
por: Feng, Huiru, et al.
Publicado: (2017)

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report
por: Liu, Linli, et al.
Publicado: (2022)

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review
por: Zhang, Zhaorui, et al.
Publicado: (2022)

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
por: Xie, Dan, et al.
Publicado: (2023)

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review
por: Liu, Lifang, et al.
Publicado: (2023)

Hypertrophic cardiomyopathy caused by a heterozygous variant in TTR gene: A case report
por: Yuan, Huayuan, et al.
Publicado: (2023)

Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report
por: Bi, Ye, et al.
Publicado: (2023)

Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report
por: Tünnemann-Tarr, Adrienn, et al.
Publicado: (2021)

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

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report
por: Huang, Xinyi, et al.
Publicado: (2022)

A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
por: Han, Rui, et al.
Publicado: (2021)

Family history and renin-angiotensin system gene polymorphisms in Chinese patients with type 2 diabetes mellitus
por: Pan, Yan-Hong, et al.
Publicado: (2017)

Genetic polymorphisms of CYP3A4 among Chinese patients with steroid-induced osteonecrosis of the femoral head
por: Wang, Yuan, et al.
Publicado: (2016)

Genotype and clinical phenotype analysis of a Family with Kennedy disease
por: Cai, Ben-Chi, et al.
Publicado: (2023)

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

Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs(∗)2) in the F5 gene: A case report
por: Park, Chang-Hun, et al.
Publicado: (2020)

Hereditary pancreatitis of 3 Chinese children: Case report and literature review
por: Dai, Li-Na, et al.
Publicado: (2016)

A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report
por: Dang, Jing, et al.
Publicado: (2022)

Identification of a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma: A case report
por: Zhao, Wenhu, et al.
Publicado: (2021)

Association of IL12A Expression Quantitative Trait Loci (eQTL) With Primary Biliary Cirrhosis in a Chinese Han Population
por: Li, Ping, et al.
Publicado: (2016)

Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report
por: He, Jing, et al.
Publicado: (2020)

Genetic Variation in Metastasis-Associated in Colon Cancer-1 and the Risk of Breast Cancer Among the Chinese Han Population: A STROBE-Compliant Observational Study
por: Dai, Zhi-Jun, et al.
Publicado: (2016)

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia
por: Liu, Li, et al.
Publicado: (2021)

Progressive hemifacial atrophy in a Chinese patient: A case report
por: Li, Rongrong, et al.
Publicado: (2022)

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

Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report
por: Zhang, Shijie, et al.
Publicado: (2020)

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)
por: Zhu, Feng, et al.
Publicado: (2019)

Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report
por: Shi, Huijun, et al.
Publicado: (2021)

First report of a Chinese patient carrying Hb Ty Gard: A case report
por: Pei, Yuanyuan, et al.
Publicado: (2022)

Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report
por: Chen, Jiayao, et al.
Publicado: (2023)

A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report
por: Zhang, Min, et al.
Publicado: (2019)

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report
por: Zhang, Honghong, et al.
Publicado: (2023)

Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report
por: Chen, Lin, et al.
Publicado: (2020)

Association between interleukin 37 (rs3811047) polymorphism and multiple autoimmune diseases in a Chinese population: A PRISMA-compliant meta-analysis
por: Lin, Xiao-Yan, et al.
Publicado: (2018)

Spinocerebellar ataxia 2 in a family with different phenotypes: Two case reports
por: Li, Yuanyuan, et al.
Publicado: (2019)

Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case–control association study in a Chinese Han population
por: Yang, Yong, et al.
Publicado: (2016)

Functional Restriction for the Fear of Falling In Family Caregivers
por: Shen, Jing, et al.
Publicado: (2015)

Association of ERBB4 genetic polymorphism with the risk and prognosis of non-small cell lung cancer in Chinese Han population: A population-based case–control study
por: Wang, Wan-ping, et al.
Publicado: (2021)

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
por: Wu, Jing, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_fe8ngs5dn28illp1gcgsemef29