2017
DOI: 10.1007/s13730-017-0273-2
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A case of mild phenotype Alport syndrome caused by COL4A3 mutations

Abstract: 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 mil… Show more

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Cited by 3 publications
(5 citation statements)
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“…The 41‐year‐old male patient only showed urine occult blood as positive and had no other symptoms of progressive renal impairment. Compared with the case reported by Kamijo et al (), our patient was different in that there were two COL4A3 gene mutations (NM_000091.4( COL4A3 ): c.971G > A and NM_000091.4( COL4A3 ): c.4411_4412del), with each mutation from one of the parents. Both of the parents had no relevant clinical manifestations, and the family history was also negative.…”
Section: Discussioncontrasting
confidence: 84%
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“…The 41‐year‐old male patient only showed urine occult blood as positive and had no other symptoms of progressive renal impairment. Compared with the case reported by Kamijo et al (), our patient was different in that there were two COL4A3 gene mutations (NM_000091.4( COL4A3 ): c.971G > A and NM_000091.4( COL4A3 ): c.4411_4412del), with each mutation from one of the parents. Both of the parents had no relevant clinical manifestations, and the family history was also negative.…”
Section: Discussioncontrasting
confidence: 84%
“…The 41-year-old male patient only showed urine occult blood as positive and had no other symptoms of progressive renal impairment. Compared with the case reported by Kamijo et al (2017), our patient was different in that there were two COL4A3 gene mutations (NM_000091.4(COL4A3): c.971G > A and NM_000091.4(COL4A3): c.4411_4412del),…”
Section: Discussioncontrasting
confidence: 84%
See 1 more Smart Citation
“…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%
“…There was a study demonstrate weaker staining of α5(IV) collagen in a patient with a novel COL4A4 nonsense mutation (22) . Another IF study of α5(IV) collagen in patients with autosomal recessive AS revealed normal positive staining of α5(IV) collagen (23) . This patient had SNHL and had COL4A3 mutations in different alleles.…”
Section: If and Ihc Staining Of α3(iv) α4(iv) And α5(iv) Collagenmentioning
confidence: 97%