Seen in 10 out of 526 DCM cases with European ethnic origin, and not seen in 320 age-matched European controls. The authors report this as “P < 0.01 by exact Fisher test”, but we calculate it to be p = 0.016 using a two-tailed Fisher’s Exact test.
In functional studies, the authors report that “the W4R mutation in MLP results in the complete loss of T-cap binding”.
Testing 652 DCM and 354 HCM patients, and 1066 chromosomes of control probands (= 533 individuals) this variant was seen in 3 DCM cases, 2 HCM, and 2 controls.
One of the three DCM families was found to have a different causative mutation (MYBPC3-Q1233X). The two controls were found to have a negative family history of heart failure. The authors conclude that “the W4R variant is not sufficient to cause cardiomyopathy”.