Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

Jun-ya Kaimori; Naotsugu Ichimaru; Yoshitaka Isaka; Fusako Hashimoto; Xuejun Fu; Yuya Hashimura; Hiroshi Kaito; Kazumoto Iijima; Masahiro Kyo; Tomoko Namba; Yoshitsugu Obi; Masaki Hatanaka; Isao Matsui; Yoshitsugu Takabatake; Masayoshi Okumi; Koji Yazawa; Norio Nonomura; Hiromi Rakugi; Shiro Takahara

首页> 外文期刊>CEN Case Reports >Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

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Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

机译：由父母将肾脏移植到常染色体隐性隐性Alport综合征的兄弟姐妹，这是由于COL4A3基因内含反义Alu元件重排导致的，结果不同

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Two siblings with autosomal recessive Alport syndrome (ARAS) obtained renal transplants from their consanguineous parents. Their COL4A3 mRNA transcripts were disrupted by a 139 bp intronic sequence between exon 48 and 49, which was derived from an antisense Alu element in this intron. The new amino acid sequence from the cryptic exon was terminated by a stop codon at the 1511th codon, resulting in the loss of 76 % α3(IV)NC1. This is the first case report of kidney transplantations between ARAS-homozygous siblings and their heterozygous parents. The brother experienced acute rejection just after transplantation and post-transplantation anti-glomerular basement membrane (GBM) nephritis, whereas the sister has experienced no problems to date. The anti-GBM nephritis could have resulted from the acute rejection. The COL4A3 gene heterozygous mutated parents, who are possibly at risk for thin basement membrane disease, have maintained their renal functions without urinary abnormalities after renal transplantation to date.

机译：患有常染色体隐性遗传性Alport综合征（ARAS）的两个兄弟姐妹从其近亲父母那里获得了肾脏移植。他们的COL4A3 mRNA转录物被外显子48和49之间的139 bp内含子序列打断，该序列来自该内含子的反义Alu元件。隐性外显子的新氨基酸序列在第1511个密码子处终止密码子终止，导致丢失76％α3（IV）NC1。这是ARAS纯合兄弟姐妹与其杂合父母之间进行肾脏移植的第一例报道。兄弟在移植和移植后抗肾小球基底膜（GBM）肾炎刚发生后就经历了急性排斥反应，而迄今为止，姐姐没有遇到任何问题。抗GBM肾炎可能是由急性排斥反应引起的。迄今为止，肾移植后COL4A3基因杂合突变的父母可能存在薄基膜疾病的风险，在没有泌尿异常的情况下仍保持了其肾功能。

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来源
《CEN Case Reports》 |2013年第1期|98-101|共4页
作者
Jun-ya Kaimori; Naotsugu Ichimaru; Yoshitaka Isaka; Fusako Hashimoto; Xuejun Fu; Yuya Hashimura; Hiroshi Kaito; Kazumoto Iijima; Masahiro Kyo; Tomoko Namba; Yoshitsugu Obi; Masaki Hatanaka; Isao Matsui; Yoshitsugu Takabatake; Masayoshi Okumi; Koji Yazawa; Norio Nonomura; Hiromi Rakugi; Shiro Takahara;
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作者单位

Department of Advanced Technology for Transplantation Osaka University Graduate School of Medicine">(1);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Advanced Technology for Transplantation Osaka University Graduate School of Medicine">(1);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Pediatrics Kobe University Graduate School of Medicine">(2);

Department of Pediatrics Kobe University Graduate School of Medicine">(2);

Department of Pediatrics Kobe University Graduate School of Medicine">(2);

Department of Pediatrics Kobe University Graduate School of Medicine">(2);

Department of Pediatrics Kobe University Graduate School of Medicine">(2);

Sakurabashi Iseikai Clinic">(3);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Specific Organ Regulation (Urology) Osaka University Graduate School of Medicine">(4);

Department of Specific Organ Regulation (Urology) Osaka University Graduate School of Medicine">(4);

Department of Specific Organ Regulation (Urology) Osaka University Graduate School of Medicine">(4);

Department of Geriatrics and Nephrology Osaka University Graduate School of Medicine">(5);

Department of Advanced Technology for Transplantation Osaka University Graduate School of Medicine">(1);

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正文语种 eng
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关键词
Alport syndrome; Anti-GBM nephritis; Cryptic exon; Renal transplantation;

机译：Alport综合征抗GBM肾炎;隐性外显子;肾移植;

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1. Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome (vol 20, pg 580, 2015) [J] . Sirisena Nirmala D., Thalgahagoda Shenal, Abeyagunawardena Asiri, Nephrology. . 2016,第4期

机译：常染色体隐性隐性阿尔波特综合征近亲家庭中的新COL4A3基因突变（第20卷，第580页，2015年）
2. Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome [J] . Sirisena Nirmala D., Thalgahagoda Shenal, Abeyagunawardena Asiri, Nephrology. . 2015,第8期

机译：常染色体隐性隐性阿尔波特综合征近亲家庭中的新型COL4A3基因突变
3. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population [J] . WebbB.D., BrandtT., LiuL., Clinical Genetics: An International Journal of Genetics in Medicine . 2014,第2期

机译：COL4A3的奠基人突变导致Ashkenazi犹太人口中的常染色体隐性遗传Alport综合征
4. Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes [O] . Jun-ya Kaimori, Naotsugu Ichimaru, Yoshitaka Isaka, 2013

机译：由父母将肾脏移植到常染色体隐性隐性Alport综合征的兄弟姐妹这是由于COL4A3基因内含反义Alu元件重排导致的结果不同
5. Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. [O] . J Ding, J Stitzel, P Berry, 1995

机译：常染色体隐性Alport综合征：Alport综合征和后翻转抗分基底膜肾炎的女性中Col4A3基因的突变。

Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

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