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. 2020 Jan 30:22:100567.
doi: 10.1016/j.ymgmr.2020.100567. eCollection 2020 Mar.

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

Natasha Zeid  1 , Chanan Stauffer  1 , Amy Yang  1 , Hetanshi Naik  1 , Luca Fierro  1 , Jaya Ganesh  1 , Manisha Balwani  1
Affiliations

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

Natasha Zeid et al. Mol Genet Metab Rep. .

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.

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Conflict of interest statement

Author NZ has received an honorarium for a lecture given at a meeting sponsored by Sanofi Genzyme. Author CS has received honoraria for lectures given at meetings sponsored by Sanofi Genzyme and is a member of the Nurse Practitioner Advisory Board for Sanofi Genzyme. Author AY has received honoraria for lectures given at meeting sponsored by Sanofi Genzyme. Author HN declares no conflict. Author LF declares no conflict. Author JG declares no conflict. Author MB is a member of the ICGG North American Scientific Advisory board and has received honoraria from Genzyme and Shire.

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