Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Dejerine-Sottas syndrome (DSS), a severe demyelinating peripheral neuropathy with onset in infancy, has been associated with mutations in either PMP22 or MPZ. Most cases of DSS are caused by a single heterozygous dominant point mutation. We identified three de novo point mutations in MPZ exon 3 in a sporadic DSS patient. These three point mutations occur on the same allele and result in three novel amino acid substitutions: Ile(85)Thr, Asn(87)His, and Asp(99)Asn. Our data raise the question as to the potential mechanism(s) involved in the formation of multiple point mutations at a given locus.
Warner
L E
LE
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Shohat
M
M
Shorer
Z
Z
Lupski
J R
JR
D000595:Amino Acid Sequence; D005091:Exons; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017422:Sequence Analysis, DNA
D018993:Myelin P0 Protein