GM2 activator protein deficiency, mimic of Tay-Sachs disease

International Journal of Epilepsy - Tập 4 - Trang 184-187 - 2017
Sheena P. Kochumon1, Dhanya Yesodharan1, KP Vinayan2, Natasha Radhakrishnan3, Jayesh J. Sheth4, Sheela Nampoothiri1
1Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, 682041, Kerala, India
2Division of Pediatric Neurology, Department of Neurology, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO Kochi 682041, India
3Department of Ophthalmology, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, 682041, Kerala, India
4Department of Biochemical and Molecular Genetics, FRIGE`s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India

Tóm tắt

AbstractGM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells. GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis (AB variant) caused by the mutation of GM2A.We report a case of a female child who presented with clinical features similar to classical Tay-Sachs disease, but with normal beta hexosaminidase enzyme levels. Molecular study revealed a novel homozygous intronic mutation which confirmed the diagnosis of GM2 Activator protein deficiency. GM2 Activator protein deficiency is a mimic of Classical Tay-Sachs disease and should be a differential diagnosis in children who present with neuroregression, cherry red spots without hepatosplenomegaly and with normal beta hexosaminidase enzyme levels.

Tài liệu tham khảo

Gravel, 1995, The GM2 gangliosidoses, 2839 Sakuraba, 1999, GM2 gangliosidosis AB variant. Clinical and biochemical studies of a Japanese patient, Neurology, 52, 372, 10.1212/WNL.52.2.372 Schroder, 1991, A mutation in the gene of a glycolipid binding protein (GM2activator) that causes GM2 gangliosidosis variant AB, FEBS Lett, 290, 1, 10.1016/0014-5793(91)81211-P Xie, 1992, A cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis, Am J Hum Genet, 50, 1046 Schroder, 1993, Molecular genetics of GM2 gangliosidosis AB variant: a novel mutation and expression in BHK cells, Hum Genet, 92, 437, 10.1007/BF00216446 Schepers, 1996, Molecular analysis of a GM2-Activator deficiency in two patients with GM2-Gangliosidosis AB variant, Am J Hum Genet, 59, 1048 Chen, 1999, Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an In-frame deletion of exon 2, Am J of Hum Genet, 65, 77, 10.1086/302463 Kolodny, 2008, A novel GM2- activator deficiency mutation as a cause of AB variant GM2-Gangliosidosis, Mol Genet Metab, 93, 27 Renaud, 2016, GM2-Gangliosidosis, AB variant: clinical, opthalmological, MRI and molecular findings, JIMD Rep, 25, 83, 10.1007/8904_2015_469 Kustermann, 2015, Rare variant of GM2 gangliosidosis due to activator protein deficiency: a case report, Neuropediatrics, 46, PS01, 10.1055/s-0035-1550688 Sheth, 2016, GM2 gangliosidosis AB variant: novel mutation from India −a case report with a Review, BMC Pediatr, 16, 88, 10.1186/s12887-016-0626-6 Burg, 1985, Mapping of the gene coding for the human GM2 activator protein to chromosome 5, Ann Hum Genet, 49, 41, 10.1111/j.1469-1809.1985.tb01674.x Wright, 2000, Crystal structure of human GM2-activator protein with a novel beta-cup topology, J Mol Biol, 304, 411, 10.1006/jmbi.2000.4225 Hama, 1997, Interaction of GM2 activator protein with glycospingolipids, J Biol Chem, 272, 2828, 10.1074/jbc.272.5.2828
Thông tin
Thông tin xuất bản

International Journal of Epilepsy

Tập 4

184-187

Thông tin tác giả