Novel mitochondrial DNA mutations implicated in Noonan syndrome

Int J Cardiol. 2007 Aug 21;120(2):284-5. doi: 10.1016/j.ijcard.2006.07.229. Epub 2006 Nov 7.

Abstract

We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Carrier Proteins / genetics
  • Child
  • DNA, Mitochondrial / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Male
  • Mutation*
  • Myosin Heavy Chains / genetics
  • Myosins
  • Noonan Syndrome / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics
  • SH2 Domain-Containing Protein Tyrosine Phosphatases
  • Troponin T / genetics
  • src Homology Domains

Substances

  • Carrier Proteins
  • DNA, Mitochondrial
  • Intracellular Signaling Peptides and Proteins
  • Troponin T
  • myosin-binding protein C
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases
  • SH2 Domain-Containing Protein Tyrosine Phosphatases
  • Myosin Heavy Chains
  • Myosins