NGDC - GSA for Human

HRA000384

HRA000384.xlsx

Title:

Novel Mutations of TCTN3/LTBP2 with Cellular Function Changes in Congenital Heart Disease Associated with Polydactyly

Release date:

2020-10-18

Description:

Congenital heart disease (CHD) associated with polydactyly involves various genes. We aimed to identify variations from genes related to complex CHD with polydactyly and to investigate the cellular functions related to the mutations. Two heterozygous mutations, LTBP2 (c.2206G>A) and TCTN3 (c.1268G>A) were identified via whole exome sequencing. The CRISPR/Cas9 system was used to generate human pluripotent stem cell with mutations that were differentiated into cardiomyocytes. The stable cell lines of hPSCs-LTBP2mu/TCTN3mu were constructed and differentiated into hPSC-CMs-LTBP2mu/TCTN3mu. Compared to the wild type, LTBP2 mutation delayed the development of CMs. The TCTN3 mutation consistently presented lower rate and weaker force of the contraction of CMs. Thus, the heterozygous mutations in TCTN3 and LTBP2 affect contractility (rate and force) of cardiac myocytes and may affect the development of the heart. These findings provide new insights into the pathogenesis of complex CHD with polydactyly.

Data Accessibility:

Controlled access Request Data

BioProject:

PRJCA003664

Study type:

Disease Study

Disease name:

Congenital heart disease

Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.

DAC NO.:

HDAC000259

DAC name:

TICH

Contact person:

chen leo

Email:

huanxincon@163.com

Description:

TEDA International Cardiovascular Hospital

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