Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30

• Type: Article in International Scientific Journal
• Date: 1999

Authors

Munar Ques, M (Author) Other; Pedrosa, JL (Author) Other; Coelho, T (Author) Other; Gusmao, L (Author) Other; Seruca, R (Author) Other; Amorim, A (Author) FCUP; Sequeiros, J (Author) Other

Journal

Title: Journal of Medical Genetics

Vol. 36

Pages: 629-632

ISSN: 0022-2593

Publisher: BMJ PUBLISHING GROUP

Indexing

ISI Web of Knowledge - 25 Citations

Scopus - 31 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-001-3RF

Abstract (EN): Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amy-Ioidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal. Monozygosity was established by analysis of DNA polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of enviromental differences or stochastic events during(or after) the twinning process.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4