Novel mitochondrial DNA mutations implicated in Noonan syndrome.
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.
Dhandapany
Perundurai S
PS
Sadayappan
Sakthivel
S
Vanniarajan
Ayyasamy
A
Karthikeyan
Bose
B
Nagaraj
Chandran
C
Gowrishankar
Kalpana
K
Selvam
Govindan Sadasivam
GS
Singh
Lalji
L
Thangaraj
Kumarasamy
K
D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D009218:Myosins; D009634:Noonan Syndrome / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D020107:Troponin T / Q000235:genetics; D018909:src Homology Domains; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D004272:DNA, Mitochondrial; D047908:Intracellular Signaling Peptides and Proteins; D018995:Myosin Heavy Chains; D009218:Myosins; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D020107:Troponin T; D000099163:Myosin Binding Protein C; C516724:PTPN11 protein, human