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

Mol Genet Metab Rep. 2020 Jan 30:22:100567. doi: 10.1016/j.ymgmr.2020.100567. eCollection 2020 Mar.

Authors

Natasha Zeid¹, Chanan Stauffer¹, Amy Yang¹, Hetanshi Naik¹, Luca Fierro¹, Jaya Ganesh¹, Manisha Balwani¹

Affiliation

¹ Lysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.

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.

Grants and funding

T32 GM082773/GM/NIGMS NIH HHS/United States