2015
DOI: 10.1016/j.ajhg.2015.07.004
|View full text |Cite
|
Sign up to set email alerts
|

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Abstract: Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems,… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

22
299
0
5

Year Published

2017
2017
2023
2023

Publication Types

Select...
5

Relationship

0
5

Authors

Journals

citations
Cited by 239 publications
(326 citation statements)
references
References 43 publications
22
299
0
5
Order By: Relevance
“…She was found to carry a de novo heterozygous c.1600C>T (p.R534C) pathogenic variant in DDX3X (Table 1). The same variant was also observed in Female 14 in our cohort, and a variant involving the same codon (p.R534H) has been reported in a patient with ID 11. A quadriceps muscle biopsy demonstrated severe mitochondrial and lipid depletion, and reduction in mitochondrial size similar to Female 17.…”
Section: Resultssupporting
confidence: 83%
See 4 more Smart Citations
“…She was found to carry a de novo heterozygous c.1600C>T (p.R534C) pathogenic variant in DDX3X (Table 1). The same variant was also observed in Female 14 in our cohort, and a variant involving the same codon (p.R534H) has been reported in a patient with ID 11. A quadriceps muscle biopsy demonstrated severe mitochondrial and lipid depletion, and reduction in mitochondrial size similar to Female 17.…”
Section: Resultssupporting
confidence: 83%
“…Two variants reported in this study, c.1600C>T (p.R534C) and c.1703C>T (p.P568L), and three previously reported, c.641T>C (p.I214T), c.931C>T (p.R311*), and c.1084C>T (p.R362C),11 have also been observed to occur somatically in association with medulloblastoma, malignant melanoma, and esophageal squamous cell carcinoma (http://cancer.sanger.ac.uk/cosmic). Malignancy has not been reported in the 31 patients included in this study.…”
Section: Discussionsupporting
confidence: 68%
See 3 more Smart Citations