Genotype-phenotype correlations in laminopathies: how does fate translate?

Abstract:

:A-type laminopathies are a group of diseases resulting from mutations in the intermediate filament proteins lamin A and C (both encoded by the LMNA gene), but for which the pathogenic mechanisms are little understood. In some laminopathies, there is a good correlation between the presence of a specific LMNA mutation and the disease diagnosed. In others however, many different mutations can give rise to the same clinical condition, even though the mutations may be distributed throughout one, or more, of the three functionally distinct protein domains of lamin A/C. Conversely, certain mutations can cause multiple laminopathies, with related patients carrying an identical mutation even having separate diseases, often affecting different tissues. Therefore clarifying genotype-phenotype links may provide important insights into both disease penetrance and mechanism. In the present paper, we review recent developments in genotype-phenotype correlations in laminopathies and discuss the factors that could influence pathology.

journal_name

Biochem Soc Trans

authors

Scharner J,Gnocchi VF,Ellis JA,Zammit PS

doi

10.1042/BST0380257

subject

Has Abstract

pub_date

2010-02-01 00:00:00

pages

257-62

issue

Pt 1

eissn

0300-5127

issn

1470-8752

pii

BST0380257

journal_volume

38

pub_type

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