What is the clinical evidence from this study?

Study design: Observational. Population: Familial dilated cardiomyopathy. Intervention: Genetic linkage analysis. Primary outcome: Identification of causal gene defect / linkage locus (LOD score 4.86).

March 2, 1999CirculationOpen Access

Familial Dilated Cardiomyopathy Locus Maps to Chromosome 2q31

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Key result

Genetic linkage analysis identified a new familial dilated cardiomyopathy locus (CMD1G) on chromosome 2q31 (maximum LOD score=4.86), causing early-onset congestive heart failure.

Population

3 generations of a kindred with autosomal dominant transmission of early-onset dilated cardiomyopathy.

Design

Other

Authors

BSBenjamin L. SiuWest Virginia University HNHideshi NiimuraKagoshima University JOJohn A. OsborneEuropean Organization for Nuclear Research

Discussion

Member takes

Implication

May inform targeted genetic evaluation in early-onset familial DCM; leaves open causal gene identification and broader applicability.

Study Design

Type

Observational

Structured PICO

Population

3 generations of a kindred with autosomal dominant transmission of early-onset dilated cardiomyopathy (9 surviving affected individuals, 2 obligate carriers).

Intervention

Genetic linkage analysis and sequencing of the cardiac-specific (N2-B) domain of titin.

Outcome

Identification of the causal gene defect / chromosomal locus.surrogate

Main Result

Effect estimate: LOD score 4.86

Identifies a novel locus (CMD1G) on chromosome 2q31 associated with early-onset familial dilated cardiomyopathy.

Cite This Study

Siu et al. (1999) conducted an observational in Familial dilated cardiomyopathy. Genetic linkage analysis was evaluated on Identification of causal gene defect / linkage locus (LOD score 4.86). Genetic linkage analysis identified a new familial dilated cardiomyopathy locus (CMD1G) on chromosome 2q31 (maximum LOD score=4.86), causing early-onset congestive heart failure.

synapsesocial.com/papers/6a0ec942aa1655e5fb22cc81 https://doi.org/10.1161/01.cir.99.8.1022

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March 2, 1999CirculationOpen Access

Familial Dilated Cardiomyopathy Locus Maps to Chromosome 2q31

View Full Paper

Ask AI

Bookmark

Key result

Genetic linkage analysis identified a new familial dilated cardiomyopathy locus (CMD1G) on chromosome 2q31 (maximum LOD score=4.86), causing early-onset congestive heart failure.

Population

3 generations of a kindred with autosomal dominant transmission of early-onset dilated cardiomyopathy.

Design

Other

Authors

BSBenjamin L. SiuWest Virginia University HNHideshi NiimuraKagoshima University JOJohn A. OsborneEuropean Organization for Nuclear Research

Discussion

Member takes

Implication

May inform targeted genetic evaluation in early-onset familial DCM; leaves open causal gene identification and broader applicability.

Study Design

Type

Observational

Structured PICO

Population

3 generations of a kindred with autosomal dominant transmission of early-onset dilated cardiomyopathy (9 surviving affected individuals, 2 obligate carriers).

Intervention

Genetic linkage analysis and sequencing of the cardiac-specific (N2-B) domain of titin.

Outcome

Identification of the causal gene defect / chromosomal locus.surrogate

Main Result

Effect estimate: LOD score 4.86

Identifies a novel locus (CMD1G) on chromosome 2q31 associated with early-onset familial dilated cardiomyopathy.

Cite This Study

synapsesocial.com/papers/6a0ec942aa1655e5fb22cc81 https://doi.org/10.1161/01.cir.99.8.1022

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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