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Tay-Sachs disease, b variant, infantile form

MedGen UID:
1842824
•Concept ID:
C5679976
•
Disease or Syndrome
Synonyms: GM2 gangliosidosis, B variant, infantile form; Hexosaminidase A deficiency, infantile form; hexosaminidase A deficiency, infantile form; Tay-Sachs disease, B variant, infantile form
 
Monarch Initiative: MONDO:0017724
Orphanet: ORPHA309178

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTay-Sachs disease, b variant, infantile form

Professional guidelines

PubMed

Prenatal diagnosis of GM2-gangliosidosis B1 variant.
Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC
Prenat Diagn 1995 Jun;15(6):585-8. doi: 10.1002/pd.1970150614. PMID: 7659693

Recent clinical studies

Etiology

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H, Poupětová H, Jirečková J, Vlášková H, Košťálová E, Mazanec R, Zumrová A, Mečíř P, Mušová Z, Magner M
J Neurol 2019 Aug;266(8):1953-1959. Epub 2019 May 10 doi: 10.1007/s00415-019-09364-3. PMID: 31076878
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L, de Olano N, Macías-Vidal J, Coll MA; Spanish GM2 Working Group
Gene 2012 Sep 10;506(1):25-30. Epub 2012 Jul 10 doi: 10.1016/j.gene.2012.06.080. PMID: 22789865
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG
Hum Mutat 2005 Sep;26(3):282. doi: 10.1002/humu.9363. PMID: 16088929
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH
Genet Med 2005 Feb;7(2):119-23. doi: 10.1097/01.gim.0000154300.84107.75. PMID: 15714079
Tay-Sachs disease in persons of French-Canadian heritage in northern New England.
Palomaki GE, Williams J, Haddow JE, Natowicz MR
Am J Med Genet 1995 May 8;56(4):409-12. doi: 10.1002/ajmg.1320560412. PMID: 7604851

Diagnosis

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A
Orphanet J Rare Dis 2023 Mar 13;18(1):52. doi: 10.1186/s13023-023-02637-1. PMID: 36907859Free PMC Article
Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.
Karataş MÇ, Yazıcı H, Bozacı AE, Canda E, Levent E, Uçar SK, Çoker M
Arch Argent Pediatr 2022 Feb;120(1):e25-e28. Epub 2022 Jan 1 doi: 10.5546/aap.2022.eng.e25. PMID: 35068126
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
İnci A, Cengiz Ergin FB, Biberoğlu G, Okur İ, Ezgü FS, Tümer L
J Pediatr Endocrinol Metab 2021 Jun 25;34(6):805-812. Epub 2021 Apr 6 doi: 10.1515/jpem-2020-0655. PMID: 33819415
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH, Ko JM, Kim MS, Kim MJ, Seong MW, Yoo T, Lim BC, Chae JH
Mol Genet Genomic Med 2021 Jun;9(6):e1677. Epub 2021 Apr 3 doi: 10.1002/mgg3.1677. PMID: 33811753Free PMC Article
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH
Genet Med 2005 Feb;7(2):119-23. doi: 10.1097/01.gim.0000154300.84107.75. PMID: 15714079

Therapy

Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease.
Colussi DJ, Jacobson MA
SLAS Discov 2019 Mar;24(3):295-303. Epub 2019 Jan 7 doi: 10.1177/2472555218814538. PMID: 30616450Free PMC Article
Substrate reduction therapy in the infantile form of Tay-Sachs disease.
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG
Neurology 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de. PMID: 16434676
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L
Hum Mol Genet 1993 Jan;2(1):61-7. doi: 10.1093/hmg/2.1.61. PMID: 8490625
Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropak M, Troxel C, Stirling JL, Pitts JS, Bapat B, Lamhonwah AM
Nature 1988 May 5;333(6168):85-6. doi: 10.1038/333085a0. PMID: 3362213

Prognosis

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.
Karataş MÇ, Yazıcı H, Bozacı AE, Canda E, Levent E, Uçar SK, Çoker M
Arch Argent Pediatr 2022 Feb;120(1):e25-e28. Epub 2022 Jan 1 doi: 10.5546/aap.2022.eng.e25. PMID: 35068126
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
İnci A, Cengiz Ergin FB, Biberoğlu G, Okur İ, Ezgü FS, Tümer L
J Pediatr Endocrinol Metab 2021 Jun 25;34(6):805-812. Epub 2021 Apr 6 doi: 10.1515/jpem-2020-0655. PMID: 33819415
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H, Poupětová H, Jirečková J, Vlášková H, Košťálová E, Mazanec R, Zumrová A, Mečíř P, Mušová Z, Magner M
J Neurol 2019 Aug;266(8):1953-1959. Epub 2019 May 10 doi: 10.1007/s00415-019-09364-3. PMID: 31076878
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH
Genet Med 2005 Feb;7(2):119-23. doi: 10.1097/01.gim.0000154300.84107.75. PMID: 15714079
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA
N Engl J Med 1990 Jul 5;323(1):6-12. doi: 10.1056/NEJM199007053230102. PMID: 2355960

Clinical prediction guides

Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C
Biochem Biophys Res Commun 2010 Feb 19;392(4):599-602. Epub 2010 Jan 25 doi: 10.1016/j.bbrc.2010.01.088. PMID: 20100466
Substrate reduction therapy in the infantile form of Tay-Sachs disease.
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG
Neurology 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de. PMID: 16434676
Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.
Ozkara HA, Sandhoff K
Brain Dev 2003 Apr;25(3):191-4. doi: 10.1016/s0387-7604(02)00213-9. PMID: 12689698
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA
N Engl J Med 1990 Jul 5;323(1):6-12. doi: 10.1056/NEJM199007053230102. PMID: 2355960
A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
Hechtman P, Khoo K, Isaacs C
Clin Genet 1983 Sep;24(3):206-15. doi: 10.1111/j.1399-0004.1983.tb02241.x. PMID: 6226462

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