Noncompaction cardiomyopathy genetic testing: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Specific Genes to Test For=== | ===Specific Genes to Test For=== | ||
Known mutations should be tested for. | Known mutations should be tested for. Examples include the following: | ||
*One defect is in the gene that encodes for [[alpha-dystrobrevin]]. This is a [[dystrophin-associated protein]] which has been mapped to [[chromosome 18q12]]. The role of this protein is to preserve the structural integrity of the muscle membrane. | |||
*There is a second X-linked genetic defect which involves a mutation in the gene G4.5 (TAZ), the same gene involved in [[Barth syndrome]]. As a result, some patients with NCC have features of [[Barth syndrome]]. This gene which encodes for [[tafazzin]]. | |||
* Mutations of the [[ryanodine receptor 2 gene]] ([[RyR2]]) as has been seen in patients with [[arrhythmogenic right ventircular dysplasia]]. | |||
* Deletions of the [[FKBP12 gene]] result in noncompaction in the mouse. | |||
* [[LMNA]] mutations | |||
*Abnormalities of trnascription factors such as NKX2.5 and TBX5. | |||
*Abnormalities of 11p15 as suggested in a GWAS analysis. | |||
*22q11 deletion | |||
The majority of the time the pattern of inheritance is [[autosomal dominant]]. In some families, the mode of transmission appears to be x-linked or via mitochondrial transmission. | |||
==References== | ==References== | ||
Latest revision as of 11:07, 6 August 2011
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Noncompaction Cardiomyopathy Microchapters |
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Pathophysiology |
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Differentiating Noncompaction Cardiomyopathy from other Diseases |
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Diagnosis |
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Treatment |
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Noncompaction cardiomyopathy genetic testing On the Web |
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Risk calculators and risk factors for Noncompaction cardiomyopathy genetic testing |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Genetic testing can be of use in counseling family members.
Demographics and Epidemiology
40% of family members will be affected.
Diagnosis
Specific Genes to Test For
Known mutations should be tested for. Examples include the following:
- One defect is in the gene that encodes for alpha-dystrobrevin. This is a dystrophin-associated protein which has been mapped to chromosome 18q12. The role of this protein is to preserve the structural integrity of the muscle membrane.
- There is a second X-linked genetic defect which involves a mutation in the gene G4.5 (TAZ), the same gene involved in Barth syndrome. As a result, some patients with NCC have features of Barth syndrome. This gene which encodes for tafazzin.
- Mutations of the ryanodine receptor 2 gene (RyR2) as has been seen in patients with arrhythmogenic right ventircular dysplasia.
- Deletions of the FKBP12 gene result in noncompaction in the mouse.
- LMNA mutations
- Abnormalities of trnascription factors such as NKX2.5 and TBX5.
- Abnormalities of 11p15 as suggested in a GWAS analysis.
- 22q11 deletion
The majority of the time the pattern of inheritance is autosomal dominant. In some families, the mode of transmission appears to be x-linked or via mitochondrial transmission.