Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2069013 | Mitochondrion | 2010 | 8 Pages |
Abstract
Mutations in PTPN11 gene was responsible for ∼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.
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Authors
Deepa Selvi Rani, Perundurai S. Dhandapany, Pratibha Nallari, Periyasamy Govindaraj, Lalji Singh, Kumarasamy Thangaraj,