MEF2C loss-of-function mutation contributes to congenital heart defects

International Journal of Medical Sciences
Xiao-Hui QiaoYi-Qing Yang

Abstract

Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. Nevertheless, CHD is of pronounced genetic heterogeneity, and the genetic basis underpinning CHD in a large proportion of patients remains unclear. In the present study, the whole coding exons and splicing donors/acceptors of the MEF2C gene, which codes for a transcription factor essential for normal cardiovascular development, were sequenced in 200 unrelated patients affected with CHD, and a novel heterozygous missense mutation, p.L38P, was identified in an index patient with patent ductus arteriosus (PDA) and ventricular septal defect (VSD). Genetic scan of the mutation carrier's family members available showed that the mutation was present in all affected family members but absent in unaffected family members. Analysis of the proband's pedigree revealed that the mutation co-segregated with PDA, which was transmitted as an autosomal dominant trait with complete penet...Continue Reading

Citations

Sep 6, 2019·International Heart Journal·Zhi WangYi-Qing Yang
Oct 18, 2019·The European Respiratory Journal·Soula DanopoulosDenise Al Alam
Nov 6, 2018·Heart and Vessels·Lan MaYi-Qing Yang
Feb 6, 2019·International Journal of Molecular Medicine·Juan WangYi-Qing Yang
Aug 1, 2020·Journal of Cardiovascular Translational Research·Marlon De ItaHaydeé Rosas-Vargas
Nov 28, 2020·Developmental Biology·Duvaraka Kula-AlwarYaniv Hinits
Mar 12, 2021·Current Cardiology Reports·Matthew MiyamotoEmmanouil Tampakakis
Apr 4, 2021·International Journal of Molecular Sciences·Stephanie L PadulaKatherine E Yutzey
Jun 30, 2021·American Journal of Medical Genetics. Part a·Jessica A Cooley ColemanJane M DeLuca

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Methods Mentioned

BETA
electrophoresis
PCR
transfection
Assay
nuclear translocation

Software Mentioned

SIFT
Primer
SPSS
PolyPhen
PROVEAN
MUSCLE
MutationTaster
- BLAST

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