Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS

被引：305

作者：

Chow, Clement Y. ^{[1
]}

Landers, John E. ^{[2
,3
]}

Bergen, Sarah K. ^{[1
]}

Sapp, Peter C. ^{[2
,3
,7
]}

Grant, Adrienne E. ^{[1
]}

Jones, Julie M. ^{[1
]}

Everett, Lesley ^{[1
]}

Lenk, Guy M. ^{[1
]}

McKenna-Yasek, Diane M. ^{[2
,3
]}

Weisman, Lois S. ^{[4
,5
]}

Figlewicz, Denise ^{[6
]}

Brown, Robert H. ^{[2
,3
]}

Meisler, Miriam H. ^{[1
]}

机构：

[1] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

[2] Massachusetts Gen Hosp, Day Neuromuscular Res Lab, Boston, MA 02114 USA

[3] Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA 01605 USA

[4] Univ Michigan, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA

[5] Univ Michigan, Inst Life Sci, Ann Arbor, MI 48109 USA

[6] Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA

[7] MIT, Dept Biol, Howard Hughes Med Inst, Cambridge, MA 02139 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 01期

基金：

美国国家卫生研究院;

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; HUMAN-DISEASE GENES; NUCLEOTIDE STRUCTURE; COMPUTATIONAL TOOLS; MUTATION PATTERN; EXCHANGE FACTOR; NEURODEGENERATION; GENETICS; PREDICT;

D O I：

10.1016/j.ajhg.2008.12.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：85 / 88

页数：4

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