GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

被引：36

作者：

Jensen, Braden S. ^{[1
,2
]}

Willer, Tobias ^{[3
,4
,5
]}

Saade, Dimah N. ^{[1
,2
]}

Cox, Mary O. ^{[6
]}

Mozaffar, Tahseen ^{[7
,8
]}

Scavina, Mena ^{[9
]}

Stefans, Vikki A. ^{[10
,11
]}

Winder, Thomas L. ^{[12
,13
]}

Campbell, Kevin P. ^{[3
,4
,5
]}

Moore, Steven A. ^{[6
]}

Mathews, Katherine D. ^{[1
,2
]}

机构：

[1] Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA

[2] Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA

[3] Univ Iowa, Howard Hughes Med Inst, Carver Coll Med, Dept Mol Physiol & Biophys, Iowa City, IA 52242 USA

[4] Univ Iowa, Howard Hughes Med Inst, Carver Coll Med, Dept Neurol, Iowa City, IA 52242 USA

[5] Univ Iowa, Howard Hughes Med Inst, Carver Coll Med, Dept Internal Med, Iowa City, IA 52242 USA

[6] Univ Iowa, Dept Pathol, Carver Coll Med, Iowa City, IA 52242 USA

[7] Univ Calif Irvine, Dept Neurol, Irvine, CA 92717 USA

[8] Univ Calif Irvine, Dept Orthopaed Surg, Irvine, CA USA

[9] Nemours Alfred I duPont Hosp Children, Wilmington, DE USA

[10] Univ Arkansas Med Sci, Coll Med, Dept Pediat, Little Rock, AR 72205 USA

[11] Univ Arkansas Med Sci, Coll Med, Dept Phys Med & Rehabil, Little Rock, AR 72205 USA

[12] Invitae Corp, San Francisco, CA USA

[13] Prevent Genet, Marshfield, WI USA

来源：

HUMAN MUTATION | 2015年 / 36卷 / 12期

关键词：

GMPPB; dystroglycanopathy; limb-girdle muscular dystrophy; congenital muscular dystrophy; congenital myasthenic syndrome; CONGENITAL MUSCULAR-DYSTROPHIES; MUTATIONS;

D O I：

10.1002/humu.22898

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of -dystroglycan. In this series, we report nine unrelated individuals with GMPPB-associated dystroglycanopathy. The most mildly affected subject has normal strength at 25 years, whereas three severely affected children presented in infancy with intellectual disability and epilepsy. Muscle biopsies of all subjects are dystrophic with abnormal immunostaining for glycosylated -dystroglycan. This cohort, together with previously published cases, allows preliminary genotype-phenotype correlations to be made for the emerging GMPPB common variants c.79G>C (p.D27H) and c.860G>A (p.R287Q). We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. Sixty-six percent of GMPPB families to date have one of these common variants. (C) 2015 Wiley Periodicals, Inc.

引用

页码：1159 / 1163

页数：5

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