June 10, 2015PLoS ONEOpen Access

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

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Population

13 relatives from a Lebanese Maronite family affected by various congenital heart defects, conduction tissue…

Design

Case_series

Authors

CACéline AugièreUniversité Laval SMSimon MégyUniversité Claude Bernard Lyon 1 RMRajae El MaltiUniversité Claude Bernard Lyon 1

Discussion

Member takes

Implication

May guide targeted family screening; leaves open whether ACTC1 mutation location dictates phenotype.

Structured PICO

Population

13 relatives from a Lebanese Maronite family affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies, and midline defects.

Intervention

Genetic linkage analysis using 399 poly(AC) markers and haplotype analysis.

Outcome

Identification of the genetic mutation responsible for the familial congenital heart defects and arrhythmias.surrogate

A novel ACTC1 mutation (p.Met84Thr) is associated with congenital heart defects and arrhythmias, suggesting that the specific phenotypic consequences of ACTC1 mutations may depend on the interaction surface between actin and myosin.

Cite This Study

Augière et al. (2015) studied this question.

synapsesocial.com/papers/6a8a6f8a6fc170cbc2fbed66 https://doi.org/10.1371/journal.pone.0127903

Topics

Congenital heart disease adults

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A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

Discussion

Member takes

Implication

Structured PICO

Cite This Study

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