Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS
Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS
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DOI：
10.1016/j.ajhg.2008.12.010
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发表时间：
2009-01-09
影响因子：
9.8
通讯作者：
Meisler, Miriam H.
中科院分区：
文献类型：
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作者：
Chow, Clement Y.;Landers, John E.;Meisler, Miriam H.
调节PI（3，5）P-2的脂质磷酸酶FIG 4的突变是隐性周围神经疾病CMT 4J的原因。我们现在描述了2%（9/473）的肌萎缩侧索硬化症（ALS）和原发性侧索硬化症（PLS）患者中FIG 4的非同义变体。图4的有害等位基因的杂合性似乎是ALS和PLS的危险因素，扩展了已知ALS基因的列表并增加了图4相关疾病的临床谱。
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P-2 are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases.