Work

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

Year: 1997

Type: article

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.

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(1997)10:1<21::aid-humu3>3.0.co;2-p

Authors: Laura E. Warner, Mordechai Shohat, Zamir Shorer, James R. Lupski

Institutions: Baylor College of Medicine, Rabin Medical Center, Soroka Medical Center

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W1990581978

FWCI: 0.919

Cites: 18

Cited by: 31

Related to: 10