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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

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成果类型:
期刊论文
作者:
Ayako Tabata;Jian-Sheng Sheng;Miharu Ushikai;Yuan-Zong Song;Hong-Zhi Gao;Yao-Bang Lu;Fumihiko Okumura;Mikio Iijima;Kozo Mutoh;Shosei Kishida;Takeyori Saheki;Keiko Kobayashi*
通讯作者:
Keiko Kobayashi
作者机构:
[Kozo Mutoh] Shimada Municipal Hosp, Dept Pediat, Shizuoka 4278502, Japan.
[Yuan-Zong Song; Mikio Iijima; Yao-Bang Lu; Takeyori Saheki; Jian-Sheng Sheng; Fumihiko Okumura; Miharu Ushikai; Keiko Kobayashi; Shosei Kishida; Ayako Tabata; Hong-Zhi Gao] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 8908544, Japan.
[Yuan-Zong Song] Jinan Univ, Affiliated Hosp 1, Dept Pediat, Guangzhou 510632, Guangdong, Peoples R China.
[Yao-Bang Lu] Hunan Univ Tradit Chinese Med, Coll Pharm, Dept Biochem, Changsha 410007, Hunan, Peoples R China.
[Takeyori Saheki] Tokushima Bunri Univ, Inst Hlth Sci, Tokushima 7708514, Japan.
通讯机构:
[Kobayashi, Keiko] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, 8-35-1 Sakuragaoka, Kagoshima 8908544, Japan.
语种:
英文
关键词:
adult-onset type II citrullinemia (CTLN2);aspartate-glutamate carrier (AGC);citrin;malate-aspartate shuttle;neonatal intrahepatic cholestatic hepatitis (NICCD);retrotransposal insertion;SLC25A13
期刊:
JOURNAL OF HUMAN GENETICS
ISSN:
1434-5161
年:
2008
卷:
53
期:
6
页码:
534-545
文献类别:
WOS:Article
所属学科:
ESI学科类别:分子生物学&遗传学;WOS学科类别:Genetics & Heredity
入藏号:
机构署名:
本校为其他机构
院系归属:
药学院
摘要:
Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21.3 and has two phenotypes: neonatal intrahepatic cholestatic hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2). So far, we have described 19 SLC25A13 mutations. Here, we report 13 novel SLC25A13 mutations (one insertion, two deletion, three splice site, two nonsense, and five missense) in patients with citrin deficiency from Japan, Israel, UK, and Czech Republic. Only R360X was detected in both Japanese and Caucasian. IVS16ins3kb identified in a Japanese CTLN2 family seems to be a retrotransposal insertion, as the inserted sequence (2,667-nt) showed an antisense strand of processed complementary DNA (cDNA) from a gene on chromosome 6 (C6orf68), and the repetitive sequence (17-nt) derived from SLC25A13 was found at both ends of the insert. All together, 30 different mutations found in 334 Japanese, 47 Chinese, 11 Korean, four Vietnamese and seven non-East Asian families have been summarized. In Japan, IVS16ins3kb was relatively frequent in 22 families, in addition to known mutations IVS11 + 1G > A, 851del4, IVS13 + 1G > A, and S225X in 189, 173, 48 and 30 families, respectively; 851del4 and IVS16ins3kb were found in all East Asian patients tested, suggesting that these mutations may have occurred very early in some area of East Asia.
参考文献:
Babushok DV, Kazazian HH Jr (2007) Progress in understanding the biology of the human mutagen LINE-1. Hum Mutat 28:527–539
Ben-Shalom E, Kobayashi K, Shaag A, Yasuda T, Gao H-Z, Saheki T, Bachmann C, Elpeleg O (2002) Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab 77:202–208
Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F (2007) Citrin deficiency: a novel cause of failure to thrive that responds to a high protein, low carbohydrate diet. Pediatrics, 119:773–777
Gao H-Z, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang J-H, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Jalil MA, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T (2003) Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients. Hum Mutat 22:24–34
Hagiwara N, Sekijima Y, Takei Y, Ikeda S, Kawasaki S, Kobayashi K, Saheki T (2003) Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. Intern Med 42:978–982

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