A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Stephanie E Wallace; Jessie H Conta; Thomas L Winder; Tobias Willer; Jamie M Eskuri; Richard Haas; Kathleen Patterson; Kevin P Campbell; Steven A Moore; Sidney M Gospe Jr

doi:10.1016/j.nmd.2014.01.001

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A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Journal article

Peer reviewed

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Stephanie E Wallace, Jessie H Conta, Thomas L Winder, Tobias Willer, Jamie M Eskuri, Richard Haas, Kathleen Patterson, Kevin P Campbell, Steven A Moore and Sidney M Gospe Jr

Neuromuscular disorders : NMD, Vol.24(4), pp.312-320

04/2014

DOI: 10.1016/j.nmd.2014.01.001

PMCID: PMC3959257

PMID: 24491487

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Abstract

Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker–Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities. Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker–Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu). This novel variant reduces the phenotypic severity compared to patients with homozygous c.2167dupG mutations or compound heterozygous patients with a c.2167dupG mutation and a wide range of other mutant POMT1 alleles.

Dystroglycanopathy

Walker–Warburg syndrome

Limb girdle muscular dystrophy

Congenital muscular dystrophy

Protein O-mannosylation

POMT1

Details

Title: Subtitle: A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
Creators: Stephanie E Wallace - Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, United States
Jessie H Conta - Department of Laboratories, Seattle Children’s Hospital, Seattle, WA, United States
Thomas L Winder - Prevention Genetics, Marshfield, WI, United States
Tobias Willer - Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States
Jamie M Eskuri - Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States
Richard Haas - Department of Neurosciences University of California, San Diego, La Jolla, CA, United States
Kathleen Patterson - Department of Pathology, Seattle Children’s Hospital, Seattle, WA, United States
Kevin P Campbell - Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States
Steven A Moore - Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States
Sidney M Gospe Jr - Department of Neurology, University of Washington, Seattle, WA, United States
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.24(4), pp.312-320
DOI: 10.1016/j.nmd.2014.01.001
PMID: 24491487
PMCID: PMC3959257
NLM abbreviation: Neuromuscul Disord
ISSN: 0960-8966
eISSN: 1873-2364
Publisher: Elsevier B.V
Language: English
Date published: 04/2014
Academic Unit: Neurology; Molecular Physiology and Biophysics; Pathology; Iowa Neuroscience Institute
Record Identifier: 9984020991402771

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