Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome

Shang, Shunlai; Peng, Fei; Wang, Tao; Wu, Xiaoyuan; Li, Ping; Li, Qinggang; Chen, Xiang M.

doi:10.1002/mgg3.741

Cited by 13 publications

(12 citation statements)

References 42 publications

(74 reference statements)

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“…All full-text case reports and articles written in English and involving affected Chinese families were included. Thirteen papers describing the COL4A5 deletion or missense mutations in Chinese families with X-linked AS were found [11][12][13][14][15][16][17][18][19][20][21][22][23] Figure 1). In pedigree 2, the proband (III-10) had proteinuria at the age of 1 year and presented with hematuria and proteinuria, without impaired renal function, hearing loss, or ocular lesions when he visited our outpatient department for the first time in 2014.…”

Section: Literature Comparisonmentioning

confidence: 99%

“…A comprehensive review on deletion or missense mutations in the COL4A5 gene in the Chinese population with X-linked AS was implemented. Data from this study and 13 published studies were included, thereby representing 141 affected participants among 88 Chinese families [11][12][13][14][15][16][17][18][19][20][21][22][23]. Twenty-four deletion mutations were discovered in 24 Chinese families involving 43 affected patients when including data from this study and nine published papers.…”

Section: Literature Reviewmentioning

confidence: 99%

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Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Gong

Liu

et al. 2021

BioMed Research International

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Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen, which is characterized by hematuria, progressive nephritis or end-stage renal disease (ESRD), hearing loss, and occasionally ocular lesions. Approximately 80% of AS cases are caused by X-linked mutations in the COL4A5 gene. This study explored novel deletion and missense mutations in COL4A5 responsible for renal disorder in two Han Chinese families. In pedigree 1, the five male patients all had ESRD at a young age, while the affected female members only presented with microscopic hematuria. Whole exome sequencing and Sanger sequencing identified a novel frameshift deletion mutation (c.422_428del, p.Leu142Valfs ∗ 11) in exon 7 of COL4A5. In pedigree 2, the 16-year-old male proband had elevated serum creatinine (309 μmol/L) without extrarenal manifestations, while his mother only manifested with hematuria. A missense mutation (c.476G>T, p.Gly159Val) was found in exon 9 of the COL4A5 gene. Neither of these mutations was present in the Exome Variant Server of the NHLBI-ESP database, nor was it found in the ExAC or 1000 Genomes databases. Through the literature review, it was found that male Chinese patients with X-linked AS carried COL4A5 deletion or missense mutations had a more severe phenotype than female patients, particularly in proteinuria and impaired renal function. Compared to male patients with missense mutations, patients in whom deletion mutations were found were more likely to progress to ESRD (15.4% vs. 36.0%, P = 0.041 ). This study identified two novel COL4A5 mutations in Chinese families with X-linked AS, expanded the mutational spectrum of the COL4A5 gene, and presented findings that are significant for the screening and genetic diagnosis of AS.

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Section: Literature Comparisonmentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Gong

Liu

et al. 2021

BioMed Research International

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“…It has been well documented that, mutations of genes encoding type IV collagen leads to AS. Studies investigating the correlations of mutations with genotype and phenotype have been under way in China [ 14 , 15 ]. However, as a developing country, there are still many economically less-developed regions in China, especially in Northeast China.…”

Section: Discussionmentioning

confidence: 99%

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China

et al. 2020

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Background Alport syndrome (AS) is a kind of progressive hereditary nephritis induced by mutations of different genes that encode collagen IV. The affected individuals usually develop hematuria during childhood, accompanying with gradual deterioration of renal functions. In this study, the multi-pronged approach was employed to improve the diagnosis of AS. Methods Twenty-two children were diagnosed and treated at the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 using the multi-pronged approach. The following information was collected from patients, including age of onset, age at diagnosis, clinical manifestations, family history, renal pathology and genotype. Results All these 22 children were diagnosed with Alport syndrome according to the diagnostic criteria formulated by the Japanese Society of Nephrology (2015), among them, only 13 children met the diagnostic criteria released in 1988. All the 22 patients presented with hematuria, and proteinuria to varying degrees was observed in some patients. Three children suffered from hearing loss, but no child in the cohort had any visual problem or renal failure. Meanwhile, five patients were estimated to be at Stage 2, whereas the remaining 17 cases were at Stage 0. Renal biopsies were performed in 18 patients, including 14 showing glomerular basement membranes (GBM)-specific abnormalities. Moreover, 13 children were detected with mutations of genes encoding collagen IV. Conclusions The multi-pronged approach helps to improve the diagnosis of AS. Most patients do not have renal failure during childhood, but close assessment and monitoring are necessary. Also, the advancements in treatment are reviewed.

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“…Novel mutations and genotype and phenotype correlation have been under study in China. [13][14] However, as a developing country, there are still many economic less-developed regions in China, especially in Northeast China. Whole exome sequencing (WES) can not be accepted in all families due to economic reason, while renal biopsy not be accepted for conservative ideas.…”

Section: Discussionmentioning

confidence: 99%

A review of multi-dimensional diagnosis of Alport syndrome in 22 children in Northeast China

Zhang¹,

Sun²,

Zhao³

et al. 2020

Preprint

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Background Alport syndrome (AS) is progressive hereditary nephritis due to different gene mutations. Affected individuals usually develop hematuria during childhood with gradual deterioration of renal functions. We adopted multi-dimensional methods to diagnose Alport syndrome in order to decrease the misdiagnosis.Methods Twenty-two children were diagnosed and managed by the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 through multi-dimensional methods. Information collected included age of onset, age at diagnosis, clinical manifestations, family history (FH), renal pathology and their genotype. Results All patients presented with hematuria with various degrees of proteinuria in some patients. While three children suffered from hearing loss, none of the children in the cohort had any visual problem or renal failure. Besides five patients estimated as Stage 2, the remain seventeen cases were at Stage 0. Renal biopsy were obtained in eighteen patients and fourteen of them showed glomerular basement membranes (GBM)-specific abnormalities. Thirteen children had mutations of the collagen IV genes. Conclusion Combined with the importance of early diagnosis and economic factors, we adopted multi-dimensional methods to improve the diagnosis of Alport syndrome and estimate the risk of progression. We also reviewed the therapy progress.

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Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome

Cited by 13 publications

References 42 publications

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China

A review of multi-dimensional diagnosis of Alport syndrome in 22 children in Northeast China

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