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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:
Tabata, Ayako;Sheng, Jian-Sheng;Ushikai, Miharu;Song, Yuan-Zong;Gao, Hong-Zhi;Lu, Yao-Bang;Okumura, Fumihiko;Iijima, Mikio;Mutoh, Kozo;Kishida, Shosei;Saheki, Takeyori;Kobayashi, Keiko
通讯作者:
Kobayashi, K
作者机构:
[Gao, Hong-Zhi; Tabata, Ayako; Kishida, Shosei; Kobayashi, Keiko; Ushikai, Miharu; Okumura, Fumihiko; Sheng, Jian-Sheng; Saheki, Takeyori; Lu, Yao-Bang; Iijima, Mikio; Song, Yuan-Zong] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 8908544, Japan.
[Gao, Hong-Zhi] Fujian Med Univ, Clin Coll 2, Dept Brain Surg, Quanzhou 362000, Peoples R China.
[Saheki, Takeyori] Tokushima Bunri Univ, Inst Hlth Sci, Tokushima 7708514, Japan.
[Lu, Yao-Bang] Hunan Univ Tradit Chinese Med, Coll Pharm, Dept Biochem, Changsha 410007, Hunan, Peoples R China.
[Song, Yuan-Zong] Jinan Univ, Affiliated Hosp 1, Dept Pediat, Guangzhou 510632, Guangdong, Peoples R China.
通讯机构:
[Kobayashi, K] 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:
06
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
入藏号:
机构署名:
本校为其他机构
院系归属:
医学院
第一中医临床学院
药学院
研究生院
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:
Saheki T, 2007, J BIOL CHEM, V282, P25041, DOI 10.1074/jbc.M702031200
Oshiro S, 2002, AM J KIDNEY DIS, V39, P189, DOI 10.1053/ajkd.2002.29915
Lee NC, 2006, J INHERIT METAB DIS, V29, P551, DOI 10.1007/s10545-006-0250-y
Tamamori A, 2002, EUR J PEDIATR, V161, P609, DOI 10.1007/s00431-002-1045-2
Lu YB, 2005, J HUM GENET, V50, P338, DOI 10.1007/s10038-005-0262-8

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