Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India.
Mutations in PTPN11 gene was responsible for approximately 50% of the Noonan syndrome (NS), however, we did not find any mutation in PTPN11 in any of seven NS patients analysed. Whereas, the complete mtDNA sequencing revealed 146 mutations, of which five, including one heteroplasmic (A11144R; Thr-->Ala) non-synonymous mutation, were novel and exclusively observed in NS patients. Interestingly all the seven probands and their maternal relatives were clustered under a major haplogroup R and its novel sub-haplogroups (R7b1b, R30a1, R30c, T2b7, U9a1) exclusive in NS, therefore we strongly suggest that these haplogroups may influence NS in South Indian populations.
Rani
Deepa Selvi
DS
Centre for Cellular and Molecular Biology (CSIR), Hyderabad, India.
Dhandapany
Perundurai S
PS
Nallari
Pratibha
P
Govindaraj
Periyasamy
P
Singh
Lalji
L
Thangaraj
Kumarasamy
K
D019943:Amino Acid Substitution / Q000235:genetics; D016000:Cluster Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007194:India; D028361:Mitochondrial Diseases / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000235:genetics*; D010802:Phylogeny; D017422:Sequence Analysis, DNA; D017385:Sequence Homology
D004272:DNA, Mitochondrial