Key result
Paternal TMEM87B mutation and maternal 2q13 microdeletion linked to severe restrictive cardiomyopathy.
Why the study?
The etiology of restrictive cardiomyopathy is poorly understood, and the role of genetic causes including TMEM87B mutations in cardiac pathology requires further elucidation.
Comparison
Chromosomal microarray analysis and whole-exome sequencing with trio-based analysis
Design
Case report
Authors
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May inform targeted genetic testing in 2q13 deletion carriers with cardiomyopathy; leaves open confirmation of TMEM87B as novel recessive etiology.
Case Report (n=1)
The discovery of a TMEM87B mutation in a patient with a 2q13 microdeletion suggests a novel autosomal-recessive etiology for congenital heart disease and restrictive cardiomyopathy.
Yu et al. (2016) conducted a case report in Restrictive cardiomyopathy (n=1). TMEM87B mutation and 2q13 microdeletion was evaluated on Genetic etiology of restrictive cardiomyopathy. A paternally inherited TMEM87B mutation combined with a maternally inherited 2q13 microdeletion was identified as a potential autosomal-recessive cause of severe restrictive cardiomyopathy.
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