Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India
نویسندگان
چکیده
References 1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013. 2. Varcin KJ, Nelson CA 3rd. A developmental neuroscience approach to the search for biomarkers in autism spectrum disorder. Curr Opin Neurol 2016;29:123‐9. 3. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Text Revision (DSM‐IV‐TR). Washington, DC: American Psychiatric Association; 2000. 4. Posar A, Resca F, Visconti P. Autism according to diagnostic and statistical manual of mental disorders 5th edition: The need for further improvements. J Pediatr Neurosci 2015;10:146‐8. Access this article online Quick Response Code: Website: www.pediatricneurosciences.com
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Humans lacking a working copy of the GNPTAB gene suffer from the metabolic disease Mucolipidosis type II (MLII). MLII symptoms include mental retardation, skeletal deformities and cartilage defects as well as a speech delay with most subjects unable to utter single words (Otomo et al., 2009; Cathey et al., 2010; Leroy et al., 2012). Here we asked whether mice lacking a copy of Gnptab gene exhib...
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Mucolipidosis type II α/β is a severe, autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β subunits of the GlcNAc-phosphotransferase. To date, over 100 different mutations have been identified in MLII α/β patients, but no large deletions have been reported. Here we present the first case of a large homozygous intragenic GNPTAB gene deleti...
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I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
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Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II bio...
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عنوان ژورنال:
دوره 12 شماره
صفحات -
تاریخ انتشار 2017