Mutation Analysis of Thin Basement Membrane Nephropathy
書誌事項
- タイトル
- Mutation Analysis of Thin Basement Membrane Nephropathy
- 著者
- 平林, 陽介
- 著者別名
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- Hirabayashi, Yosuke
- ヒラバヤシ, ヨウスケ
- 学位授与大学
- 三重大学
- 取得学位
- 博士(医学)
- 学位授与番号
- 甲医学第2179号
- 学位授与年月日
- 2023-03-24
説明
Thin basement membrane nephropathy (TBMN) is characterized by the observation of microhematuria and a thin glomerular basement membrane on kidney biopsy specimens. Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or autosomal dominant Alport syndrome (ADAS). Thirteen TBMN cases were analyzed using Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and exome sequencing. Ten heterozygous variants were detected in COL4A3 or COL4A4 in nine patients via Sanger sequencing, three of which were novel variants. The diagnostic rate of “likely pathogenic” or “pathogenic” under the American College of Medical Genetics and Genomics guidelines was 53.8% (7 out of 13 patients). There were eight single nucleotide variants, seven of which were glycine substitutions in the collagenous domain, one of which was a splice-site single nucleotide variant, and two of which were deletion variants. One patient had digenic variants in COL4A3 and COL4A4. While MLPA analyses showed negative results, exome sequencing identified three heterozygous variants in causative genes of FSGS in four patients with no apparent variants on Sanger sequencing. Since patients with heterozygous mutations of COL4A3 or COL4A4 showed a wide spectrum of disease from TBMN to ADAS, careful follow-up will be necessary for these patients.
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詳細情報 詳細情報について
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- CRID
- 1910302385664579584
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- NII論文ID
- 500001566888
- 500001566909
- 500001905836
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- HANDLE
- 10076/0002000035
- 10076/0002000056
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- 本文言語コード
- en
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- データソース種別
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- IRDB
- NDLサーチ