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;...

通讯作者：

Kobayashi, Keiko

作者机构：

[Song, Yuan-Zong; Iijima, Mikio; Lu, Yao-Bang; Saheki, Takeyori; Sheng, Jian-Sheng; Okumura, Fumihiko; Ushikai, Miharu; Kobayashi, Keiko; Kishida, Shosei; Tabata, Ayako; Gao, Hong-Zhi] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 8908544, Japan.

[Song, Yuan-Zong] Jinan Univ, Affiliated Hosp 1, Dept Pediat, Guangzhou 510632, Guangdong, Peoples R China.

[Gao, Hong-Zhi] Fujian Med Univ, Clin Coll 2, Dept Brain Surg, Quanzhou 362000, Peoples R China.

[Lu, Yao-Bang] Hunan Univ Tradit Chinese Med, Coll Pharm, Dept Biochem, Changsha 410007, Hunan, Peoples R China.

[Mutoh, Kozo] Shimada Municipal Hosp, Dept Pediat, Shizuoka 4278502, Japan.

通讯机构：

[Kobayashi, Keiko] 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：

期：

页码：

534-545

DOI：

10.1007/s10038-008-0282-2

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 Cauca...

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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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