Abstract
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c.1035dup mutation in the two siblings, supporting a diagnosis of Sengers syndrome. Our patients presented an intermediate form with intellectual deficiency, an unusual feature in Sengers syndrome. This permitted a prenatal diagnosis for a following pregnancy.
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The parents gave their permission for publication, written informed consents were obtained from parents for the genetic analyses. This report is in accordance with the French “Reference methodology” (MR-001) modified on the 5th January 2006 and signed by the CHU of Clermont-Ferrand on the 15th March 2007 for usual cares in patients. This article obtained authorization of the interregional ethics committee (CECIC Auvergne-Rhône-Alpes, Grenoble, IRB 5921) for publication.
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Allali, S., Dorboz, I., Samaan, S. et al. Mutation in the AGK gene in two siblings with unusual Sengers syndrome. Metab Brain Dis 32, 2149–2154 (2017). https://doi.org/10.1007/s11011-017-0101-6
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DOI: https://doi.org/10.1007/s11011-017-0101-6