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...

Descripción completa

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
_version_ 1783494110121820160
author Zeid, Natasha
Stauffer, Chanan
Yang, Amy
Naik, Hetanshi
Fierro, Luca
Ganesh, Jaya
Balwani, Manisha
author_facet Zeid, Natasha
Stauffer, Chanan
Yang, Amy
Naik, Hetanshi
Fierro, Luca
Ganesh, Jaya
Balwani, Manisha
author_sort Zeid, Natasha
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7000790
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-70007902020-02-10 The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling Zeid, Natasha Stauffer, Chanan Yang, Amy Naik, Hetanshi Fierro, Luca Ganesh, Jaya Balwani, Manisha Mol Genet Metab Rep Short Communication 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. Elsevier 2020-01-30 /pmc/articles/PMC7000790/ /pubmed/32042592 http://dx.doi.org/10.1016/j.ymgmr.2020.100567 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Zeid, Natasha
Stauffer, Chanan
Yang, Amy
Naik, Hetanshi
Fierro, Luca
Ganesh, Jaya
Balwani, Manisha
The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
title The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
title_full The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
title_fullStr The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
title_full_unstemmed The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
title_short The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
title_sort n370s/r496h genotype in type 1 gaucher disease – natural history and implications for pre symptomatic diagnosis and counseling
topic Short Communication
url 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
work_keys_str_mv AT zeidnatasha then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT staufferchanan then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT yangamy then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT naikhetanshi then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT fierroluca then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT ganeshjaya then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT balwanimanisha then370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT zeidnatasha n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT staufferchanan n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT yangamy n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT naikhetanshi n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT fierroluca n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT ganeshjaya n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling
AT balwanimanisha n370sr496hgenotypeintype1gaucherdiseasenaturalhistoryandimplicationsforpresymptomaticdiagnosisandcounseling

Ejemplares similares