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 journalArticle

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 languageEnglish (US)
Article number100567
JournalMolecular Genetics and Metabolism Reports
Volume22
DOIs
StatePublished - Mar 2020

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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