The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Natasha Zeid; Chanan Stauffer; Amy Yang; Hetanshi Naik; Luca Fierro; Jaya Ganesh; Manisha Balwani

doi:10.1016/j.ymgmr.2020.100567

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English (US)
Article number	100567
Journal	Molecular Genetics and Metabolism Reports
Volume	22
DOIs	https://doi.org/10.1016/j.ymgmr.2020.100567
State	Published - Mar 2020
Externally published	Yes

Keywords

Carrier screening
Gaucher disease
Genetic counseling
Genotype-phenotype correlations
Pre symptomatic

ASJC Scopus subject areas

Molecular Biology
Genetics
Endocrinology

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title = "The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling",

abstract = "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 = "Carrier screening, Gaucher disease, Genetic counseling, Genotype-phenotype correlations, Pre symptomatic",

author = "Natasha Zeid and Chanan Stauffer and Amy Yang and Hetanshi Naik and Luca Fierro and Jaya Ganesh and Manisha Balwani",

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year = "2020",

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journal = "Molecular Genetics and Metabolism Reports",

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T1 - The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

AU - Zeid, Natasha

AU - Stauffer, Chanan

AU - Yang, Amy

AU - Naik, Hetanshi

AU - Fierro, Luca

AU - Ganesh, Jaya

AU - Balwani, Manisha

PY - 2020/3

Y1 - 2020/3

N2 - 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.

AB - 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.

KW - Carrier screening

KW - Gaucher disease

KW - Genetic counseling

KW - Genotype-phenotype correlations

KW - Pre symptomatic

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JO - Molecular Genetics and Metabolism Reports

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The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Abstract

Keywords

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