Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of South India

作者：Rani Deepa Selvi; Dhandapany Perundurai S; Nallari Pratibha; Govindaraj Periyasamy; Singh Lalji; Thangaraj Kumarasamy^*

来源：Mitochondrion, 2010, 10(2): 166-173.

DOI：10.1016/j.mito.2009.12.146

• Noonan syndrome
• Congenital heart disease
• mtDNA
• Haplogroup
• PTPN11

Mutations in PTPN11 gene was responsible for similar to 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.

• 出版日期2010-3