Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan

Matsumoto, Hiroshi; Hayashi, Yukiko; Kim, Dae-Son; Ogawa, Megumu; Murakami, T.; Noguchi, S.; Nonaka, Ikuya; Nakazawa, Tomoyuki; Matsuo, Takiko; Futagami, Satoshi; Campbell, Kevin P.; Nishino, Ichizo

doi:10.1016/j.nmd.2005.01.009

Cited by 45 publications

(29 citation statements)

References 20 publications

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“…Subsequently, abnormal staining of ␣-dystroglycan by the VIA4-1 and/or IIH6 monoclonal antibodies and decreased staining of laminin ␣ 2 -chain were observed in all cases investigated (146,160,161 ). Diagnosis: As the function of fukutin is unknown at present, the diagnosis can be confirmed only at the molecular genetic level (158,162 ).…”

Section: Wws Severe Mutations In the Fcmd Gene Lead To Wws (158 159 )mentioning

confidence: 99%

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

et al. 2006

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Background: Genetic diseases that affect the biosynthesis of protein O-glycans are a rapidly growing group of disorders. Because this group of disorders does not have a collective name, it is difficult to get an overview of O-glycosylation in relation to human health and disease. Many patients with an unsolved defect in Nglycosylation are found to have an abnormal O-glycosylation as well. It is becoming increasingly evident that the primary defect of these disorders is not necessarily localized in one of the glycan-specific transferases, but can likewise be found in the biosynthesis of nucleotide sugars, their transport to the endoplasmic reticulum (ER)/Golgi, and in Golgi trafficking. Already, disorders in O-glycan biosynthesis form a substantial group of genetic diseases. In view of the number of genes involved in O-glycosylation processes and the increasing scientific interest in congenital disorders of glycosylation, it is expected that the number of identified diseases in this group will grow rapidly over the coming years. Content: We first discuss the biosynthesis of protein O-glycans from their building blocks to their secretion from the Golgi. Subsequently, we review 24 different genetic disorders in O-glycosylation and 10 different genetic disorders that affect both N-and O-glycosylation. The key clinical, metabolic, chemical, diagnostic, and genetic features are described. Additionally, we describe methods that can be used in clinical laboratory screening for protein O-glycosylation biosynthesis defects and their

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Section: Wws Severe Mutations In the Fcmd Gene Lead To Wws (158 159 )mentioning

confidence: 99%

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

et al. 2006

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“…Therefore, MEB patients may exist with a broader distribution than previously expected. Later, Matsumoto et al (2005) performed detailed genetic and clinico-pathological analyses on 62 Japanese patients whose limb-muscle specimens showed altered glycosylation of alpha-dystroglycan. FKTN mutations were found in 54 patients (86%) examined, reflecting the most common form of CMD in Japan.…”

Section: Japanese Patients With Alpha-dystroglycanopthy With Other Gementioning

confidence: 99%

“…Among their 62 Japanese patients with alpha-dystroglycanopathy, Matsumoto et al (2005) found four patients with no mutation in the known genes associated with glycosylation defects of alpha-dystroglycan. They were clinically diagnosed to have MEB or WWS.…”

Section: Cmd Patients Without Known Gene Mutations Of Alpha-dystroglymentioning

confidence: 99%

Alpha-Dystroglycanopathy

Yoshioka¹

2012

Muscular Dystrophy

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“…However, when amalgamating these results, it remains clear that FKRP mutations are the most frequently found in this group of conditions. We and others have previously published extensively on the spectrum of these mutations (128,205,211,258,(262)(263)(264)(265)(266)(267)(268)(269)(270)(271). (Figure 12 and Table 10).…”

Section: Mutation Frequenciesmentioning

confidence: 99%

Congenital Muscular Dystrophy

Oh¹,

Park²,

Yun³

et al. 2012

Atlas of Genetic Diagnosis and Counseling

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The second part of the thesis is concerned with the dystroglycanopathies, a recently described group of CMDs associated with aberrant glycosylation of alpha dystroglycan.To date, 7 genes have been identified, some of which give rise to multiple dystroglycanopathy phenotypes. I studied the genotype-phenotype relationship in a large group of dystroglycanopathy patients, reporting new clinical phenotypes and establishing the mutation frequency in this group. I also report in detail the spectrum of MRI brain changes seen in 27 dystroglycanopathy patients.In summary, this work reports the diagnostic outcome in the largest cohort of UK CMD cases studied and refines the genotype-phenotype correlation in patients with dystroglycanopathies.

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Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan

Cited by 45 publications

References 20 publications

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

Alpha-Dystroglycanopathy

Congenital Muscular Dystrophy

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