A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

被引：4

作者：

Abe, Yoshifusa ^{[1
]}

Iyoda, Masayuki ^{[2
]}

Nozu, Kandai ^{[3
]}

Hibino, Satoshi ^{[1
]}

Hihara, Kei ^{[2
]}

Yamaguchi, Yutaka ^{[4
]}

Yamamura, Tomohiko ^{[3
]}

Minamikawa, Shogo ^{[3
]}

Iijima, Kazumoto ^{[3
]}

Shibata, Takanori ^{[2
]}

Itabashi, Kazuo ^{[1
]}

机构：

[1] Showa Univ, Sch Med, Dept Pediat, Shinagawa, Japan

[2] Showa Univ, Sch Med, Dept Med, Div Nephrol, Shinagawa, Japan

[3] Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan

[4] Yamaguchis Pathol Lab, Chiba, Japan

来源：

INTERNAL MEDICINE | 2016年 / 55卷 / 19期

关键词：

Alport syndrome; X-linked; COL4A5; mutation; woman; GENOTYPE-PHENOTYPE CORRELATIONS; CONVERTING ENZYME-INHIBITION; CHROMOSOME INACTIVATION; NATURAL-HISTORY; RENAL-FAILURE; COLLAGEN; CARRIERS; DISEASE; WOMEN; GENE;

D O I：

10.2169/internalmedicine.55.6873

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G> C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important.

引用

页码：2843 / 2847

页数：5

共 50 条

[1] A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome
Baikara, Barshagul T.
Zholdybayeva, Elena V.
Rakhimova, Saule E.
Nigmatullina, Nazym B.
Momynaliev, Kuvat T.
Ramanculov, Yerlan M.
PLOS ONE, 2015, 10 (07):
[2] Novel deletion mutation in a Chinese family with X-linked alport syndrome
Li, Yongzhen
He, Qingnan
Wang, Yanran
Wang, Ying
Dang, Xiqiang
Wu, Xiaochuan
Li, Xiaoyan
Shuai, Lanjun
Yi, Zhuwen
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2018, 11 (09): : 4657 - +
[3] A novel G472R mutation in a Turkish family with X-linked Alport syndrome
R. Topaloglu
K. E. Plant
F. Flinter
Pediatric Nephrology, 2000, 14 : 480 - 481
[4] A novel G472R mutation in is Turkish family with X-linked Alport syndrome
Topaloglu, R
Plant, KE
Flinter, F
PEDIATRIC NEPHROLOGY, 2000, 14 (06) : 480 - 481
[5] A family with X-linked Alport syndrome confirmed by skin biopsy
Komatsuda, A
Ohtani, H
Wakui, H
Tokuda, N
Nakamoto, Y
Sado, Y
Naitoh, I
Imai, H
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2002, 17 (06) : 1145 - 1147
[6] X-linked Alport syndrome in females
Meleg-Smith, S
Magliato, S
Cheles, M
Garola, RE
Kashtan, CE
HUMAN PATHOLOGY, 1998, 29 (04) : 404 - 408
[7] X-LINKED INHERITANCE OF ALPORT SYNDROME - FAMILY-P REVISITED
HASSTEDT, SJ
ATKIN, CL
AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : 1241 - 1251
[8] Genetic cause of X-linked Alport syndrome in a family of domestic dogs
Melissa L. Cox
George E. Lees
Clifford E. Kashtan
Keith E. Murphy
Mammalian Genome, 2003, 14 : 396 - 403
[9] Genetic cause of X-linked Alport syndrome in a family of domestic dogs
Cox, ML
Lees, GE
Kashtan, CE
Murphy, KE
MAMMALIAN GENOME, 2003, 14 (06) : 396 - 403
[10] Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing
Guo, Yi
Yuan, Jinzhong
Liang, Hui
Xiao, Jingjing
Xu, Hongbo
Yuan, Lamei
Gao, Kai
Wu, Bin
Tang, Yongchang
Li, Xiaorong
Deng, Hao
MOLECULAR BIOLOGY REPORTS, 2014, 41 (06) : 3631 - 3635

← 1 2 3 4 5 →