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Multiple de novo MPZ (P 0 ) point mutations in a sporadic Dejerine‐Sottas case
Author(s) -
Warner Laura E.,
Shohat Mordechai,
Shorer Zamir,
Lupski James R.
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:1<21::aid-humu3>3.0.co;2-p
Subject(s) - point mutation , genetics , biology , hum , exon , locus (genetics) , allele , mutation , gene , art , performance art , art history
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. Hum Mutat 10:21–24, 1997. © 1997 Wiley‐Liss, Inc.