Mutation in myosin heavy chain 6 causes atrial septal defect

  title={Mutation in myosin heavy chain 6 causes atrial septal defect},
  author={Yung-Hao Ching and Tushar Kanti Ghosh and Steve Cross and Elizabeth A. Packham and Louise Honeyman and Siobhan Loughna and Thelma E. Robinson and Andrew M Dearlove and Gl{\`o}ria Ribas and Andrew J Bonser and Neil R. Thomas and Andrew J Scotter and Leo S. D. Caves and Graham P Tyrrell and Ruth Newbury-Ecob and Arnold Munnich and Damien Bonnet and J. David Brook},
  journal={Nature Genetics},
Atrial septal defect is one of the most common forms of congenital heart malformation. We identified a new locus linked with atrial septal defect on chromosome 14q12 in a large family with dominantly inherited atrial septal defect. The underlying mutation is a missense substitution, I820N, in α-myosin heavy chain (MYH6), a structural protein expressed at high levels in the developing atria, which affects the binding of the heavy chain to its regulatory light chain. The cardiac transcription… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 109 extracted citations


Publications referenced by this paper.
Showing 1-10 of 36 references

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

  • Ghosh, T.K
  • Hum. Mol. Genet
  • 2001

from mutation identification to mechanistic paradigms

  • J. G. Seidman, Seidman, C. The genetic basis for cardiomyopathy
  • Cell 104, 557–567
  • 2001

Similar Papers

Loading similar papers…