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

Rani, Deepa Selvi ; Dhandapany, Perundurai S. ; Nallari, Pratibha ; Govindaraj, Periyasamy ; Singh, Lalji ; Thangaraj, Kumarasamy (2010) Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of South India Mitochondrion, 10 (2). pp. 166-173. ISSN 1567-7249

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Official URL: http://www.sciencedirect.com/science/article/pii/S...

Related URL: http://dx.doi.org/10.1016/j.mito.2009.12.146

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.

Item Type:Article
Source:Copyright of this article belongs to Elsevier Science.
Keywords:Noonan Syndrome; Congenital Heart Disease; mtDNA; Haplogroup; PTPN11
ID Code:46839
Deposited On:06 Jul 2011 06:56
Last Modified:06 Jul 2011 06:56

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