Two Novel Mutations in the AGK Gene: Two Case Reports with Sengers Syndrome

Mutations in the AGK gene are known to cause Sengers Syndrome, a rare recessive disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance and lactic acidosis with normal mental development. Since the first report in 1975 by Sengers et al. about 50 individuals have been described as having this syndrome. Here we report two novel mutations in the AGK gene in two patients with neonatal Sengers syndrome. *Corresponding author: Deniz Kor, Department of Pediatric Metabolism and Nutrition, Cukurova University Faculty of Medicine, Adana, Turkey, Tel: +90 3223386060; Fax: +90 3223387083; e-mail: [email protected] Received December 29, 2015; Accepted May 16, 2016; Published May 21, 2016 Citation: Kor D, Yılmaz BS, Horoz OO, Ceylaner G, Sızmaz S, et al. (2016) Two Novel Mutations in the AGK Gene: Two Case Reports with Sengers Syndrome. Gene Technol 5: 140. doi: 10.4172/2329-6682.1000140 Copyright: © 2016 Kor D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.