Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient

WDR45 gene‐associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta‐propeller protein‐associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report il...

Full description

Saved in:
Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 176; no. 5; pp. 1049 - 1054
Main Authors Willoughby, Josh, Duff‐Farrier, Celia, Desurkar, Archana, Kurian, Manju, Raghavan, Ashok, Balasubramanian, Meena
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.05.2018
Subjects
Children
cultured fibroblasts
Diagnosis
Genetic screening
in silico analysis
intronic
iron accumulation
Magnetic resonance imaging
MRI‐brain
mRNA
mRNA analysis
mutation
Neurodegeneration
Pathogenicity
Phenotypes
Seizures
Splicing
WDR45
in silico analysis
mutation
mRNA analysis
intronic
splicing
MRI-brain
WDR45
cultured fibroblasts
iron accumulation
Online AccessGet full text

Cover

More Information
Summary:WDR45 gene‐associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta‐propeller protein‐associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6‐year‐old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38656