Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without...

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Bibliographic Details
Main Authors: Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-01-01
Series:Frontiers in Genetics
Subjects:
CHD7
next generation sequencing
alternative splicing
minigene
CHARGE syndrome
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00007/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00007/full

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