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...

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Detalles Bibliográficos
Autores principales: Zeid, Natasha, Stauffer, Chanan, Yang, Amy, Naik, Hetanshi, Fierro, Luca, Ganesh, Jaya, Balwani, Manisha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000790/
https://www.ncbi.nlm.nih.gov/pubmed/32042592
http://dx.doi.org/10.1016/j.ymgmr.2020.100567
Descripción
Sumario: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.

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