Format

Send to

Choose Destination
Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Author information

1
Molecular and Human Genetics Baylor College of Medicine Houston Texas.
2
Baylor Genetics Houston Texas.
3
Texas Children's Hospital Houston Texas.
4
Specially for Children Austin Texas.
5
Clinical Pediatrics The Ohio State University Columbus Ohio.
6
Division of Molecular & Human Genetics Nationwide Children's Hospital Columbus Ohio.
7
Department of Pediatrics Division of Genetics University of California San Francisco California.
8
Department of Genetics Kanuni Sultan Suleyman Training and Research Hospital Instanbul Turkey.
9
Section of Neurology Department of Pediatrics Baylor College of Medicine Houston Texas.
10
Centre de Génétique Humaine Université de Franche-Comté Besançon France.
11
Human Genome Sequencing Center Baylor College of Medicine Houston Texas.
12
Pathology Baylor College of Medicine Houston Texas.
13
Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana.
14
Neurology Baylor College of Medicine and Michael E. DeBakey VA Medical Center Houston Texas.
15
Neurology University of Utah and George E. Wahlen VA Medical Center Salt Lake City Utah.

Abstract

De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline. Our findings expand the spectrum of DNA variants and phenotypes associated with DDX3X disorders.

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center