GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening
The GM2 gangliosidose, Tay–Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently av...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2011-06, Vol.155A (6), p.1281-1284 |
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| container_end_page | 1284 |
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| container_issue | 6 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 155A |
| creator | Kaya, Namik Owain, Mohammad Al AbuDheim, Nada Zahrani, Jawaher Al Colak, Dilek Sayed, Moeen Al Milanlioglu, Aysel Ozand, Pinar T. Alkuraya, Fowzan S. |
| description | The GM2 gangliosidose, Tay–Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population. © 2011 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.33932 |
| format | Article |
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Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population. © 2011 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 1552-4833</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.33932</identifier><identifier>PMID: 21567908</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>beta-Hexosaminidase alpha Chain - genetics ; beta-Hexosaminidase beta Chain - genetics ; Biological and medical sciences ; carrier testing ; DNA Mutational Analysis ; Errors of metabolism ; Gangliosidoses, GM2 - genetics ; Gangliosidoses, GM2 - prevention & control ; Gangliosidosis ; General aspects. Genetic counseling ; Genetic screening ; Genetic Testing - methods ; HEXA ; HEXB ; Humans ; Lipids (lysosomal enzyme disorders, storage diseases) ; lysosomal storage diseases ; Medical genetics ; Medical sciences ; Metabolic diseases ; Mutation ; Mutation - genetics ; Neurodegeneration ; neurodegenerative ; Neurological complications ; Saudi Arabia</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>The GM2 gangliosidose, Tay–Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population. © 2011 Wiley‐Liss, Inc.</description><subject>beta-Hexosaminidase alpha Chain - genetics</subject><subject>beta-Hexosaminidase beta Chain - genetics</subject><subject>Biological and medical sciences</subject><subject>carrier testing</subject><subject>DNA Mutational Analysis</subject><subject>Errors of metabolism</subject><subject>Gangliosidoses, GM2 - genetics</subject><subject>Gangliosidoses, GM2 - prevention & control</subject><subject>Gangliosidosis</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic screening</subject><subject>Genetic Testing - methods</subject><subject>HEXA</subject><subject>HEXB</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>lysosomal storage diseases</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurodegeneration</subject><subject>neurodegenerative</subject><subject>Neurological complications</subject><subject>Saudi Arabia</subject><issn>1552-4825</issn><issn>1552-4833</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90ctvEzEQB2ALUdEH3DgjXxAcSPBj7bV7CxHdgppyKAiJizVreyOXfQR7V6X_fR2ShlsPli3rmxnLP4ReUzKnhLCPcNut5zDnXHP2DJ1QIdisUJw_P5yZOEanKd0Swoko5Qt0zKiQpSbqBDXViuE19Os2DCm4vBIOPb6ByQW8iFAHOMerqR3DpvW4m0YYw9AnDL3DNh-C83F_1QwRN9M4RY8txBh8xMlG7_vQr1-iowba5F_t9zP04-Lz9-Xl7Opb9WW5uJrZgue3cl1L1milPdOEKwcaaOFKSbTVVmpWi0bKWtoSnKqh1poUgktaO8EVd1zwM_Ru13cThz-TT6PpQrK-baH3w5SMkoqXihGW5fsnJSW01IoyojP9sKM2DilF35hNDB3E-4zMNgOzzcCA-ZdB5m_2nae68-6AHz89g7d7AMlC20TobUj_XcFIzmw7l-_cXWj9_ZNDzeLrqnocP9tVhTT6v4cqiL-NLHkpzM_rylzLiix_6U_mhj8AK3iukQ</recordid><startdate>201106</startdate><enddate>201106</enddate><creator>Kaya, Namik</creator><creator>Owain, Mohammad Al</creator><creator>AbuDheim, Nada</creator><creator>Zahrani, Jawaher Al</creator><creator>Colak, Dilek</creator><creator>Sayed, Moeen Al</creator><creator>Milanlioglu, Aysel</creator><creator>Ozand, Pinar T.</creator><creator>Alkuraya, Fowzan S.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201106</creationdate><title>GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening</title><author>Kaya, Namik ; Owain, Mohammad Al ; AbuDheim, Nada ; Zahrani, Jawaher Al ; Colak, Dilek ; Sayed, Moeen Al ; Milanlioglu, Aysel ; Ozand, Pinar T. ; Alkuraya, Fowzan S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4352-39b62f989e29038da9a14d7609c9c692b5f66b6c7ad8bab99045361bd5383d353</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>beta-Hexosaminidase alpha Chain - genetics</topic><topic>beta-Hexosaminidase beta Chain - genetics</topic><topic>Biological and medical sciences</topic><topic>carrier testing</topic><topic>DNA Mutational Analysis</topic><topic>Errors of metabolism</topic><topic>Gangliosidoses, GM2 - genetics</topic><topic>Gangliosidoses, GM2 - prevention & control</topic><topic>Gangliosidosis</topic><topic>General aspects. 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| fulltext | fulltext |
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| ispartof | American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1281-1284 |
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| source | MEDLINE; Wiley Online Library |
| subjects | beta-Hexosaminidase alpha Chain - genetics beta-Hexosaminidase beta Chain - genetics Biological and medical sciences carrier testing DNA Mutational Analysis Errors of metabolism Gangliosidoses, GM2 - genetics Gangliosidoses, GM2 - prevention & control Gangliosidosis General aspects. Genetic counseling Genetic screening Genetic Testing - methods HEXA HEXB Humans Lipids (lysosomal enzyme disorders, storage diseases) lysosomal storage diseases Medical genetics Medical sciences Metabolic diseases Mutation Mutation - genetics Neurodegeneration neurodegenerative Neurological complications Saudi Arabia |
| title | GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening |
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