RGD Reference Report - Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. - Rat Genome Database

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Authors: Nelis, E  Erdem, S  Van Den Bergh, PY  Belpaire-Dethiou, MC  Ceuterick, C  Van Gerwen, V  Cuesta, A  Pedrola, L  Palau, F  Gabreels-Festen, AA  Verellen, C  Tan, E  Demirci, M  Van Broeckhoven, C  De Jonghe, P  Topaloglu, H  Timmerman, V 
Citation: Nelis E, etal., Neurology 2002 Dec 24;59(12):1865-72.
RGD ID: 1358634
Pubmed: PMID:12499475   (View Abstract at PubMed)

BACKGROUND: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth disease (CMT) type 4A (CMT4A) as well as AR axonal CMT with vocal cord paralysis. METHODS: The coding region of GDAP1 was screened for the presence of mutations in seven families with AR CMT in which the patients were homozygous for markers of the CMT4A locus at chromosome 8q21.1. RESULTS: A nonsense mutation was detected in exon 5 (c.581C>G, S194X), a 1-bp deletion in exon 6 (c.786delG, G262fsX284), and a missense mutation in exon 6 (c.844C>T, R282C). CONCLUSIONS: Mutations in GDAP1 are a frequent cause of AR CMT. They result in an early-onset, severe clinical phenotype. The range of nerve conduction velocities (NCV) is variable. Some patients have normal or near normal NCV, suggesting an axonal neuropathy, whereas others have severely slowed NCV compatible with demyelination. The peripheral nerve biopsy findings are equally variable and show features of demyelination and axonal degeneration.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Charcot-Marie-Tooth disease  ISOGDAP1 (Homo sapiens)1358634; 1358634DNA:nonsense mutation more ...RGD 
Charcot-Marie-Tooth disease type 4A  IAGP 1358634DNA:nonsense mutation more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Peripheral demyelination  IAGP 1358634DNA:mutations:cds:RGD 
Objects Annotated

Genes (Rattus norvegicus)
Gdap1  (ganglioside-induced differentiation-associated-protein 1)

Genes (Mus musculus)
Gdap1  (ganglioside-induced differentiation-associated-protein 1)

Genes (Homo sapiens)
GDAP1  (ganglioside induced differentiation associated protein 1)


Additional Information