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

[31] X-LINKED ALPORT SYNDROME IS NOT A DISEASE EXCLUSIVE TO MALES
Tandukar, Srijan
Baatarkhuu, Badamkhand
Rondon-Berrios, Helbert
AMERICAN JOURNAL OF KIDNEY DISEASES, 2018, 71 (04) : 590 - 590
[32] MULTIPOINT LINKAGE ANALYSIS IN X-LINKED ALPORT SYNDROME
HERTZ, JM
KRUSE, TA
THOMSEN, A
SPENCER, ES
HUMAN GENETICS, 1991, 88 (02) : 157 - 161
[33] The variable course of women with X-linked Alport Syndrome
Raju, Priya
Cimbaluk, David
Korbet, Stephen M.
CLINICAL KIDNEY JOURNAL, 2013, 6 (06): : 630 - 634
[34] Phenotypic heterogeneity in females with X-linked Alport syndrome
Allred, Samuel C.
Weck, Karen E.
Gasim, Adil
Mottl, Amy K.
CLINICAL NEPHROLOGY, 2015, 84 (05) : 296 - 300
[35] Mouse model of X-linked Alport syndrome.
Rheault, MN
Kren, SM
Thielen, BK
Mesa, HA
Crosson, JT
Kashtan, CE
Segal, Y
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 : 26A - 26A
[36] Female X-linked Alport syndrome with somatic mosaicism
Kana Yokota
Kandai Nozu
Shogo Minamikawa
Tomohiko Yamamura
Keita Nakanishi
Hisashi Kaneda
Riku Hamada
Yoshimi Nozu
Akemi Shono
Takeshi Ninchoji
Naoya Morisada
Shingo Ishimori
Junya Fujimura
Tomoko Horinouchi
Hiroshi Kaito
Koichi Nakanishi
Ichiro Morioka
Mariko Taniguchi-Ikeda
Kazumoto Iijima
Clinical and Experimental Nephrology, 2017, 21 : 877 - 883
[37] A Novel Gene Variant in a Japanese Family in X-Linked Thrombocytopenia
Hamanaka, Serena
Matsui, Motohiro
Minegishi, Hidehiro
Suzuki, Kyogo
Yokokawa, Yuichi
Makimoto, Atsushi
Yoshihashi, Hiroshi
Uchiyama, Toru
Ishiguro, Akira
Yuza, Yuki
PEDIATRIC BLOOD & CANCER, 2021, 68
[38] X-linked Alport syndrome with "empty capsule sign"
Kudose, Satoru
Batal, Ibrahim
D'Alessandri-Silva, Cynthia
Lin, Fangming
D'Agati, Vivette D.
Markowitz, Glen S.
KIDNEY INTERNATIONAL, 2020, 97 (02) : 426 - 426
[39] Identification of 6 novel mutations in the COL4A5 gene of Japanese patients with X-linked alport syndrome
Krol, R.
Nozu, K.
Kanda, K.
Kaito, H.
Nakanishi, K.
Yoshikawa, N.
Kamei, K.
Iijima, K.
Matsuo, M.
PEDIATRIC NEPHROLOGY, 2007, 22 (09) : 1492 - 1492
[40] A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita
Hiramatsu, H
Fujii, T
Kitoh, T
Sawada, M
Osaka, M
Koami, K
Irino, T
Miyajima, T
Ito, M
Sugiyama, T
Okuno, T
PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2002, 19 (06) : 413 - 419

← 1 2 3 4 5 →