6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy

In this study, we describe 13 newly identified individuals with microdeletions of chromosome 6q25.1 that involve TAB2. One of the patients in our study cohort has the smallest deletion yet reported, affecting only TAB2. These were compared to 27 other patients reported in the published literature or DECIPHER to have similar microdeletions, for a total study group of 40 patients. Our study shows that individuals with TAB2 deletions are predisposed to developing a primary cardiomyopathy with reduced systolic function, even in the absence of CHD. Our study cohort also shares a number of non‐cardiac phenotypic findings: characteristic dysmorphic facial features, intrauterine growth restriction and/or postnatal proportionate short stature, hypotonia, developmental delay and/or intellectual disability, and connective tissue abnormalities. We conclude that a microdeletion of 6q25.1 that includes TAB2 causes a distinctive, multi‐systemic syndrome. The 6q25.1 microdeletion syndrome should be considered in a patient with cardiomyopathy or a CHD, especially valve and/or atrial or ventricular septal abnormalities, and with phenotypic features described in this study. We recommend that patients with a TAB2 deletion be screened longitudinally for systolic heart failure, even if an initial echocardiogram is normal.

Source: American Journal of Medical Genetics Part A - May 2, 2017 Category: Genetics & Stem Cells Authors: Andrew Cheng, Mary Beth P. Dinulos, Whitney Neufeld ‐Kaiser, Jill Rosenfeld, McKenna Kyriss, Suneeta Madan‐Khetarpal, Hiba Risheg, Peter H. Byers, Yajuan J. Liu Tags: ORIGINAL ARTICLE Source Type: research