Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

We describe a patient with congenital hypomyelination neuropathy. The patho logical and morphometrical findings in the sural nerve biopsy were consiste nt with a defect of myelin formation and maintenance. Direct sequence analy sis of the genomic regions coding the peripheral myelin proteins PO and PMP 22 disclosed a heterozygous missense point mutation that leads to a Ser72Le u substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-So ttas syndrome and including congenital hypomyelination neuropathy. (C) 1999 Elsevier Science B.V. All rights reserved.