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Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

✍ Scribed by Laura E. Warner; Mordechai Shohat; Zamir Shorer; James R. Lupski

Book ID: 101263864
Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 149 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:1<21::aid-humu3>3.0.co;2-p

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✦ Synopsis

Communicated by Victor A. McKusick 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.

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