Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.
We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance. Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome and including congenital hypomyelination neuropathy.
Simonati
A
A
Department of Neurological and Visual Sciences, University of Verona, Italy.
Fabrizi
G M
GM
Pasquinelli
A
A
Taioli
F
F
Cavallaro
T
T
Morbin
M
M
Marcon
G
G
Papini
M
M
Rizzuto
N
N
D019943:Amino Acid Substitution / Q000235:genetics* / Q000502:physiology; D004247:DNA / Q000032:analysis / Q000235:genetics; D003711:Demyelinating Diseases / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D004576:Electromyography; D004594:Electrophysiology; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology*; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics / Q000502:physiology*; D013497:Sural Nerve / Q000473:pathology
D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA