@2024 Afarand., IRAN
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(1):
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(1):
Tay-Sachs Disease; Report of 6 Iranian Patients and Review of Literature
ARTICLE INFO
Article Type
Case ReportAuthors
Hadipour Z. (*)Shafeghati Y. (1)
Tonekaboni H. (2)
Verheijen F.W. (3)
Rolfs A. (4)
Hadipour F. (5)
(*) *“Genetic Department, Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Women’s Hospital, Tehran, Iran
(1) Department of Genetic Medicine, Sarem Women’s Hospital, Tehran, Iran
(2) School of Medicine, Shahid Beheshti Medical University, Tehran, Iran
(3) Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
(4) Albrecht-Kossel-Institute at the University of Rostock, Centogene, Germany
(5) Genetic Department, Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran
Correspondence
Address: Sarem Women’s Hospital, Basij Square, Phase 3, Ekbatan Town, Tehran, Iran. Postal Code: 1396956111Phone: +98 (21) 44670888
Fax: +98 (21) 44670432
dr.hadipour@yahoo.com
Article History
Received: August 18, 2016Accepted: December 24, 2016
ePublished: February 15, 2017
ABSTRACT
Information & Methods
Tay-Sachs is a rare genetic-metabolic disease inherited by autosomal recessive inheritance. The reason for appearance of this disease is a defect in ß-hexosaminamide A enzyme and the accumulation of glycosphingolipid in cell lysosomes. The disease is characterized by progressive weakness, loss of motor skills, increased motor response, and decreased consciousness from about 3 to 6 months. Seizure, blindness, and evidence of progressive neurological degeneration are observed in almost all patients as bilateral cherry red spot on ophthalmoscopy.
In this study, 6 children with Tay-Sachs were reported with the above symptoms. An enzyme study was performed on them, with a significant decrease in ß-hexosaminamide A enzyme levels in all patients.
Conclusion To prevent the recurrence of Tay-Sachs disease, ß-hexosaminidase A activity measurement by molecular and genetic methods and the investigation of mutations in the Hexosaminidase gene are necessary. Thus, with prenatal diagnosis, we can prevent the birth of another affected offspring with the consent of the parents.
Conclusion To prevent the recurrence of Tay-Sachs disease, ß-hexosaminidase A activity measurement by molecular and genetic methods and the investigation of mutations in the Hexosaminidase gene are necessary. Thus, with prenatal diagnosis, we can prevent the birth of another affected offspring with the consent of the parents.
CITATION LINKS
[1]Kaback MM, Desnick RJ, Pagon RA, Adam MP, Ardinger HH, Wallace SE, et al. Hexosaminidase a deficiency gene reviews [Internet]. Seattle: University of Washington, Seattle; 1999 [Updated 2011 Aug 11]. Available From: https://www.ncbi.nlm.nih.gov/pubmed/20301397.
[2]Mittal P, Gupta R, Garg P, Mittal A, Kaur H, Gupta S. CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. Neurol India. 2016;64(6):1372-1373
[3]Sandhoff K. Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism. Biochimie. 2016;130:146-15.
[4]Dersh D, Iwamoto Y, Argon Y. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. Mol Biol Cell. 2016; 27(24):3813-27.
[5]Georgiou T, Christopoulos G, Anastasiadou V, Hadjiloizou S, Cregeen D, Jackson M, et al. The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. Meta Gene. 2014;2:200-5.
[6]Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, et al. Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience. J Paediatr Child Health. 2015;51(3):271-9.
[7]Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of Lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr. 2012;49(10):799-804.
[8]Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011;128(5):e1233-41.
[9]Gort L, de Olano N, Macías-Vidal J, Coll MA. GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. Gene. 2012;506(1):25-30.
[10]Deik A, Saunders-Pullman R. Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 2014;49(5):768-71.
[11]Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 2014;23(3):730-48.
[2]Mittal P, Gupta R, Garg P, Mittal A, Kaur H, Gupta S. CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. Neurol India. 2016;64(6):1372-1373
[3]Sandhoff K. Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism. Biochimie. 2016;130:146-15.
[4]Dersh D, Iwamoto Y, Argon Y. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. Mol Biol Cell. 2016; 27(24):3813-27.
[5]Georgiou T, Christopoulos G, Anastasiadou V, Hadjiloizou S, Cregeen D, Jackson M, et al. The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. Meta Gene. 2014;2:200-5.
[6]Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, et al. Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience. J Paediatr Child Health. 2015;51(3):271-9.
[7]Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of Lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr. 2012;49(10):799-804.
[8]Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011;128(5):e1233-41.
[9]Gort L, de Olano N, Macías-Vidal J, Coll MA. GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. Gene. 2012;506(1):25-30.
[10]Deik A, Saunders-Pullman R. Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 2014;49(5):768-71.
[11]Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 2014;23(3):730-48.