Mutation in myosin heavy chain 6 causes atrial septal defect

@article{Ching2005MutationIM,
  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},
  year={2005},
  volume={37},
  pages={423-428}
}
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

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