A Novel<i>COL4A3</i>Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Uzak, Asli Subasioglu; Tokgöz, Bülent; Dündar, Munis; Tekin, Mustafa

doi:10.1089/gtmb.2012.0340

Cited by 10 publications

(7 citation statements)

References 31 publications

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“…Therefore, we considered that the presence or absence of the a5 chain which varied with the pattern of gene mutation was related to the prognosis of renal function, regardless of whether patients have XLAS and ARAS. However, no distinct association between genotype and phenotype has been observed with regards to any genotype of AS [14]. Our patient had two heterozygous mutations in COL4A3.…”

Section: Discussionmentioning

confidence: 51%

A case of mild phenotype Alport syndrome caused by COL4A3 mutations

et al. 2017

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In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the a5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV collagen a3 chain. These two gene mutations represented a new pattern of mutation and was suggested the association with an atypical a5 chain expression and mild phenotype.

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Section: Discussionmentioning

confidence: 51%

A case of mild phenotype Alport syndrome caused by COL4A3 mutations

et al. 2017

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“…Therefore, this analysis finally included 26 eligible articles with 148 patients (Figure 1) [7,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48]. The respective characteristics of included studies are summarized in Table 1.…”

Section: Resultsmentioning

confidence: 99%

Features of Autosomal Recessive Alport Syndrome: A Systematic Review

Lee

Nozu

Choi

et al. 2019

JCM

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Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked (XLAS) inheritance is the most common form, cases with autosomal recessive inheritance with mutations in COL4A3 or COL4A4 are being increasingly recognized. A systematic review was conducted on autosomal recessive Alport syndrome (ARAS). Electronic databases were searched using related terms (until Oct 10th, 2018). From 1601 articles searched, there were 26 eligible studies with 148 patients. Female and male patients were equally affected. About 62% of patients had ESRD, 64% had sensorineural hearing loss (SNHL) and 17% had ocular manifestation. The median at onset was 2.5 years for hematuria (HU), 21 years for ESRD, and 13 years for SNHL. Patients without missense mutations had more severe outcomes at earlier ages, while those who had one or two missense mutations had delayed onset and lower prevalence of extrarenal manifestations. Of 49 patients with kidney biopsy available for electron microscopy (EM) pathology, 42 (86%) had typical glomerular basement membrane (GBM) changes, while 5 (10%) patients showed GBM thinning only. SNHL developed earlier than previously reported. There was a genotype phenotype correlation according to the number of missense mutations. Patients with missense mutations had delayed onset of hematuria, ESRD, and SNHL and lower prevalence of extrarenal manifestations.

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“…1 Autosomal-recessive AS is caused by homozygous or compound heterozygous mutations in the COL4A3 or COL4A4 genes. 2 This paper describes the first reported consanguineous family with autosomal recessive AS caused by novel double homozygous mutations in the COL4A3 gene.…”

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confidence: 99%