The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we report our experience with 14 patients with t...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919302125 |
| _version_ | 1819225493590769664 |
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| author | Natasha Zeid Chanan Stauffer Amy Yang Hetanshi Naik Luca Fierro Jaya Ganesh Manisha Balwani |
| author_facet | Natasha Zeid Chanan Stauffer Amy Yang Hetanshi Naik Luca Fierro Jaya Ganesh Manisha Balwani |
| author_sort | Natasha Zeid |
| collection | DOAJ |
| description | Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we report our experience with 14 patients with this genotype. Our data suggests that most patients with N370S/R496H present with mild manifestations and often do not require treatment. This information is important for counseling newly diagnosed patients and GD1 carrier couples. Keywords: Gaucher disease, Genetic counseling, Genotype-phenotype correlations, Carrier screening, Pre symptomatic |
| first_indexed | 2024-12-23T10:10:28Z |
| format | Article |
| id | doaj.art-c426b90b29844a3db17752c6a19e6c5a |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-23T10:10:28Z |
| publishDate | 2020-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-c426b90b29844a3db17752c6a19e6c5a2022-12-21T17:50:59ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-03-0122The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counselingNatasha Zeid0Chanan Stauffer1Amy Yang2Hetanshi Naik3Luca Fierro4Jaya Ganesh5Manisha Balwani6Lysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaLysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaLysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaLysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaLysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaLysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaCorresponding author at: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place. Box 1497, New York, NY 10029, United States of America.; Lysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of AmericaType 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we report our experience with 14 patients with this genotype. Our data suggests that most patients with N370S/R496H present with mild manifestations and often do not require treatment. This information is important for counseling newly diagnosed patients and GD1 carrier couples. Keywords: Gaucher disease, Genetic counseling, Genotype-phenotype correlations, Carrier screening, Pre symptomatichttp://www.sciencedirect.com/science/article/pii/S2214426919302125 |
| spellingShingle | Natasha Zeid Chanan Stauffer Amy Yang Hetanshi Naik Luca Fierro Jaya Ganesh Manisha Balwani The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling Molecular Genetics and Metabolism Reports |
| title | The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling |
| title_full | The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling |
| title_fullStr | The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling |
| title_full_unstemmed | The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling |
| title_short | The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling |
| title_sort | n370s r496h genotype in type 1 gaucher disease natural history and implications for pre symptomatic diagnosis and counseling |
| url | http://www.sciencedirect.com/science/article/pii/S2214426919302125 |
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