A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype

Jonghe, Peter De; Timmerman, Vincent; Nelis, Eva; Vriendt, Els De; Löfgren, A.; Ceuterick, C.; Martin, Jean‐Jacques; Broeckhoven, Christine Van

doi:10.1001/archneur.56.10.1283

Cited by 12 publications

(7 citation statements)

References 25 publications

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“…We also included the patient with CMT who had a potent novel mutation in the ARHGEF10 gene, as aforementioned. The phenotype of the patient was classified as the axonal type by neurophysiological testing, but the MCV was moderately slowed (median nerve MCV 41.7 m/s), as well as in previous studies 20 21. Verhoeven et al demonstrated the possibility that ARHGEF10 protein is associated with the developmental myelination of peripheral nerves using a mouse model.…”

Section: Discussionmentioning

confidence: 67%

Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease

Noto

Shiga

Tsuji

et al. 2014

J Neurol Neurosurg Psychiatry

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Section: Discussionmentioning

confidence: 67%

Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease

Noto

Shiga

Tsuji

et al. 2014

J Neurol Neurosurg Psychiatry

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“…3B. Other genes that have been mapped to chromosome 10q21.1 near the MAWBP gene include the myxoid chondrosarcoma translocation gene (Shen et al 1990) and the Charcot-Marie-Tooth disease type 1D (CMT1D) gene (De Jonghe et al 1999). …”

Section: Methods Results and Discussionmentioning

confidence: 99%

Cloning and sequencing of a novel human gene which encodes a putative hydroxylase

et al. 2001

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Using a conventional two-hybrid technique with MAWD as bait protein, a novel full-length cDNA was isolated and sequenced from a human liver cDNA library. This cDNA consists of 2575 base pairs and has a predicted open reading frame encoding 255 amino acids. Overall, it is similar to the catalytic enzyme PHZF, catalyzing the hydroxylation of phenazine-1-carboxylic acid to 2-hydroxyphenazine-1-carboxylic acid. Polymerase chain reactionbased mapping with both a monochromosomal hybrid panel and radiation hybrid cell panels placed the gene to human chromosome 10q21.1 near the marker D10S210.

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“…The mutation T 95 →M is a very common mutation in Europe and is associated with late‐onset axonal neuropathy and prominent sensory involvement (De Jonghe et al, ). This mutation alters the P0 glycosylation motif, resulting in the loss of glycosylation of the protein, which will be undigested by endoglycosidase (Grandis et al, ).…”

Section: Loss and Gain Of Glycosylation In P0 Human Protein From Poinmentioning

confidence: 99%

Glycans of myelin proteins

Sędzik

Jastrzebski

Grandis

2014

J of Neuroscience Research

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Human P0 is the main myelin glycoprotein of the peripheral nervous system. It can bind six different glycans, all linked to Asn(93) , the unique glycosylation site. Other myelin glycoproteins, also with a single glycosylation site (PMP22 at Asn(36) , MOG at Asn(31) ), bind only one glycan. The MAG has 10 glycosylation sites; the glycoprotein OMgp has 11 glycosylation sites. Aside from P0, no comprehensive data are available on other myelin glycoproteins. Here we review and analyze all published data on the physicochemical structure of the glycans linked to P0, PMP22, MOG, and MAG. Most data concern bovine P0, whose glycan moieties have an MW ranging from 1,294.56 Da (GP3) to 2,279.94 Da (GP5). The pI of glycosylated P0 protein varies from pH 9.32 to 9.46. The most charged glycan is MS2 containing three sulfate groups and one glucuronic acid; whereas the least charged one is the BA2 residue. All glycans contain one fucose and one galactose. The most mannose rich are the glycans MS2 and GP4, each of them has four mannoses; OPPE1 contains five N-acetylglucosamines and one sulfated glucuronic acid; GP4 contains one sialic acid. Furthermore, human P0 variants causing both gain and loss of glycosylation have been described and cause peripheral neuropathies with variable clinical severity. In particular, the substitution T(95) →M is a very common in Europe and is associated with a late-onset axonal neuropathy. Although peripheral myelin is made up largely of glycoproteins, mutations altering glycosylation have been described only in P0. This attractive avenue of research requires further study.

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A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype

Abstract: Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity.

Cited by 12 publications

References 25 publications

Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease

Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease

Cloning and sequencing of a novel human gene which encodes a putative hydroxylase

Glycans of myelin proteins

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