title: Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India.
abstract: 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.
authors.affiliation: Centre for Cellular and Molecular Biology (CSIR), Hyderabad, India.
authors.forename: Deepa Selvi
authors.initials: DS
authors.lastname: Rani
authors.forename: Perundurai S
authors.initials: PS
authors.lastname: Dhandapany
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial