2015
DOI: 10.1038/ejhg.2015.121
|View full text |Cite
|
Sign up to set email alerts
|

The use of whole-exome sequencing to disentangle complex phenotypes

Abstract: The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants causing more complex phenotypes that seem unlikely to be due to the disruption of a single gene. We describe a family where two male offspring of healthy first cousin parents present a complex phenotype consisting of peripheral neuropathy and bronchiectasis that has not been described previously in… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1

Citation Types

0
16
0

Year Published

2016
2016
2024
2024

Publication Types

Select...
6
1
1

Relationship

0
8

Authors

Journals

citations
Cited by 16 publications
(16 citation statements)
references
References 15 publications
0
16
0
Order By: Relevance
“…8 The gene belongs to a family of purinoreceptors for ATP, which function as ligand-gated ion-channels, and seem to have a role in the ATP-induced glutamate transmission in the hippocampus. 48 …”
Section: Discussionmentioning
confidence: 99%
“…8 The gene belongs to a family of purinoreceptors for ATP, which function as ligand-gated ion-channels, and seem to have a role in the ATP-induced glutamate transmission in the hippocampus. 48 …”
Section: Discussionmentioning
confidence: 99%
“…Recently, complex disorders have been deciphered by using WES. 19 In the present study, we describe the clinical phenotype of two families with AD-FMD showing incomplete penetrance and variable expressivity. We also report two missense variants in the DPT and SEMA3D genes in FMD, suggesting genetic heterogeneity.…”
Section: Introductionmentioning
confidence: 99%
“…WES continues to be an efficient tool to determine disease-causing variants (Williams et al 2016; Adams & Eng 2018; Suwinski et al 2019), although the monogenic hypothesis in FMD should be reconsidered to achieve results beyond private rare variants for singular families. Thus, the “one variant-one disease” hypothesis, described for classic Mendelian inheritance cannot explain the incomplete penetrance or variable expressivity observed in MD (Martín-Sierra et al 2017) and more complex inheritance models are needed (Cooper et al 2013; Kousi & Katsanis 2015).…”
Section: Introductionmentioning
confidence: 99%