Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A with an underlying duplication in the gene coding for the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P(0)) account for demyelinating CMT1B, Dejerine-Sottas syndrome (DSS), or congenital hypomyelinating neuropathy (CHN). Here, we report a patient with a severe, early-onset hypertrophic and dysmyelinating neuropathy. The patient exhibits a novel frameshift mutation with an insertion of a single T-nucleotide on position c.618_619 of the MPZ gene resulting in a premature stop M207fsX38.
Zschüntzsch
Jana
J
Department of Neurology, Georg-August-University Göttingen, 37099 Göttingen, Germany.
Dibaj
Payam
P
Pilgram
Sara
S
Kötting
Judith
J
Gerding
Wanda M
WM
Neusch
C
C
D000328:Adult; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D016368:Frameshift Mutation; D006801:Humans; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics*; D011115:Polyneuropathies / Q000235:genetics* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology
D018993:Myelin P0 Protein