Annals of neurology · 2006
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Lee Jennifer A, Madrid Ricardo E, Sperle Karen, Ritterson Carolyn M, Hobson Grace M, Garbern James, Lupski James R, Inoue Ken
Аннотация
OBJECTIVE: To report an association between spastic paraplegia type 2 with axonal peripheral neuropathy and apparent proteolipid protein gene (PLP1) silencing in a family.
METHODS: Pulsed-field gel electrophoresis, custom array comparative genomic hybridization, and semi-quantitative multiplex polymerase chain reaction analyses were used to examine the PLP1 genomic region.
RESULTS: Electrodiagnostic studies and a sural nerve biopsy showed features of a dystrophic axonal neuropathy. Molecular studies identified a small duplication downstream of PLP1.
INTERPRETATION: We propose the duplication to result in PLP1 gene silencing by virtue of a position effect. Our observations suggest that genomic rearrangements that do not include PLP1 coding sequences should be considered as yet another potential mutational mechanism underlying PLP1-related dysmyelinating disorders.
METHODS: Pulsed-field gel electrophoresis, custom array comparative genomic hybridization, and semi-quantitative multiplex polymerase chain reaction analyses were used to examine the PLP1 genomic region.
RESULTS: Electrodiagnostic studies and a sural nerve biopsy showed features of a dystrophic axonal neuropathy. Molecular studies identified a small duplication downstream of PLP1.
INTERPRETATION: We propose the duplication to result in PLP1 gene silencing by virtue of a position effect. Our observations suggest that genomic rearrangements that do not include PLP1 coding sequences should be considered as yet another potential mutational mechanism underlying PLP1-related dysmyelinating disorders.
Предметные рубрики MeSH
DNA Mutational AnalysisElectrophoresis, Polyacrylamide GelHumansMARVEL Domain-Containing ProteinsMagnetic Resonance ImagingMaleMembrane ProteinsMicroscopy, Electron, TransmissionMutationNeural ConductionNucleic Acid HybridizationPelizaeus-Merzbacher DiseasePeripheral Nervous System DiseasesProteolipidsReverse Transcriptase Polymerase Chain ReactionSural Nerve