A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India

A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonat...

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Autores principales: Hariharan, Nivedita, Ravi, Samathmika, Pradeep, Bulagonda Eswarappa, Subramanyam, Koushik Narayan, Choudhary, Bibha, Srinivasan, Subhashini, Khanchandani, Prakash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803204/
https://www.ncbi.nlm.nih.gov/pubmed/29423242
http://dx.doi.org/10.1038/hgv.2017.61
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author Hariharan, Nivedita
Ravi, Samathmika
Pradeep, Bulagonda Eswarappa
Subramanyam, Koushik Narayan
Choudhary, Bibha
Srinivasan, Subhashini
Khanchandani, Prakash
author_facet Hariharan, Nivedita
Ravi, Samathmika
Pradeep, Bulagonda Eswarappa
Subramanyam, Koushik Narayan
Choudhary, Bibha
Srinivasan, Subhashini
Khanchandani, Prakash
author_sort Hariharan, Nivedita
collection PubMed
description A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonatal screening to assign novel functions. Here, we report a novel loss-of-function mutation (p.Trp370*) in the HACE1 gene that is associated with a rare congenital neurodevelopmental disorder in a boy from a remote village in southern India.
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spelling pubmed-58032042018-02-08 A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India Hariharan, Nivedita Ravi, Samathmika Pradeep, Bulagonda Eswarappa Subramanyam, Koushik Narayan Choudhary, Bibha Srinivasan, Subhashini Khanchandani, Prakash Hum Genome Var Data Report A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonatal screening to assign novel functions. Here, we report a novel loss-of-function mutation (p.Trp370*) in the HACE1 gene that is associated with a rare congenital neurodevelopmental disorder in a boy from a remote village in southern India. Nature Publishing Group 2018-02-08 /pmc/articles/PMC5803204/ /pubmed/29423242 http://dx.doi.org/10.1038/hgv.2017.61 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Hariharan, Nivedita
Ravi, Samathmika
Pradeep, Bulagonda Eswarappa
Subramanyam, Koushik Narayan
Choudhary, Bibha
Srinivasan, Subhashini
Khanchandani, Prakash
A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
title A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
title_full A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
title_fullStr A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
title_full_unstemmed A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
title_short A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
title_sort novel loss-of-function mutation in hace1 is linked to a genetic disorder in a patient from india
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803204/
https://www.ncbi.nlm.nih.gov/pubmed/29423242
http://dx.doi.org/10.1038/hgv.2017.61
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