Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Hum Mutat
; 10(1): 21-4, 1997.
Article
in En
| MEDLINE
| ID: mdl-9222756
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hereditary Sensory and Motor Neuropathy
/
Point Mutation
/
Myelin P0 Protein
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Hum Mutat
Year:
1997
Document type:
Article