Abstract
There are two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot-Marie-Tooth disease type 2B). We report a family with autosomal dominant ulcero-mutilating neuropathy, developing in the teens and characterized by ulcers, amputations, sensory involvement in the feet but no motor features. Sequencing the RAB7 gene showed a novel heterozygous A to C mutation, changing asparagine to threonine at codon 161. The mutation is situated adjacent to a previously identified valine to methionine mutation at codon 162, implying a hotspot for mutations in the highly conserved C terminus of RAB7.
MeSH terms
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Adaptor Proteins, Signal Transducing
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Amino Acid Sequence
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Animals
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Asparagine / genetics
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Biopsy / methods
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Carrier Proteins / metabolism
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Charcot-Marie-Tooth Disease / genetics*
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Charcot-Marie-Tooth Disease / metabolism
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Charcot-Marie-Tooth Disease / pathology
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Charcot-Marie-Tooth Disease / physiopathology
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DNA Mutational Analysis / methods
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Family Health
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Functional Laterality / physiology
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Hereditary Sensory and Autonomic Neuropathies / genetics*
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Hereditary Sensory and Autonomic Neuropathies / metabolism
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Hereditary Sensory and Autonomic Neuropathies / pathology
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Hereditary Sensory and Autonomic Neuropathies / physiopathology
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Humans
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Immunohistochemistry / methods
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In Vitro Techniques
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Male
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Middle Aged
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Mutation*
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Neural Conduction / physiology
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Staining and Labeling / methods
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Sural Nerve / metabolism
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Sural Nerve / pathology
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Sural Nerve / physiopathology
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Sural Nerve / radiation effects
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Threonine / genetics
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rab GTP-Binding Proteins / genetics*
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rab7 GTP-Binding Proteins
Substances
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Adaptor Proteins, Signal Transducing
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Carrier Proteins
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RILP protein, human
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rab7 GTP-Binding Proteins
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rab7 GTP-binding proteins, human
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Threonine
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Asparagine
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rab GTP-Binding Proteins