Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood...

Descripción completa

Detalles Bibliográficos
Autores principales: Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771929/
https://www.ncbi.nlm.nih.gov/pubmed/29375865
http://dx.doi.org/10.1002/ccr3.1284
_version_ 1783293325361545216
author Abhyankar, Avinash
Lamendola‐Essel, Michelle
Brennan, Kelly
Giordano, Jessica L.
Esteves, Cecilia
Felice, Vanessa
Wapner, Ronald
Jobanputra, Vaidehi
author_facet Abhyankar, Avinash
Lamendola‐Essel, Michelle
Brennan, Kelly
Giordano, Jessica L.
Esteves, Cecilia
Felice, Vanessa
Wapner, Ronald
Jobanputra, Vaidehi
author_sort Abhyankar, Avinash
collection PubMed
description We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood spot can be a valuable option when no biological samples are available from a deceased child.
format Online
Article
Text
id pubmed-5771929
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-57719292018-01-26 Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency Abhyankar, Avinash Lamendola‐Essel, Michelle Brennan, Kelly Giordano, Jessica L. Esteves, Cecilia Felice, Vanessa Wapner, Ronald Jobanputra, Vaidehi Clin Case Rep Case Reports We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood spot can be a valuable option when no biological samples are available from a deceased child. John Wiley and Sons Inc. 2017-12-15 /pmc/articles/PMC5771929/ /pubmed/29375865 http://dx.doi.org/10.1002/ccr3.1284 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Abhyankar, Avinash
Lamendola‐Essel, Michelle
Brennan, Kelly
Giordano, Jessica L.
Esteves, Cecilia
Felice, Vanessa
Wapner, Ronald
Jobanputra, Vaidehi
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
title Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
title_full Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
title_fullStr Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
title_full_unstemmed Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
title_short Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
title_sort clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771929/
https://www.ncbi.nlm.nih.gov/pubmed/29375865
http://dx.doi.org/10.1002/ccr3.1284
work_keys_str_mv AT abhyankaravinash clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT lamendolaesselmichelle clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT brennankelly clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT giordanojessical clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT estevescecilia clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT felicevanessa clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT wapnerronald clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency
AT jobanputravaidehi clinicalwholeexomesequencingfromdriedbloodspotidentifiesnovelgeneticdefectunderlyingasparaginesynthetasedeficiency

Ejemplares similares