Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

• Published in: Journal of medical genetics Vol. 51; no. 12; pp. 806 - 813
• Main Authors: Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.12.2014; BMJ Publishing Group
• Series: Original article
• Subjects: Amino Acid Sequence; Amino Acid Substitution; Brain - pathology; Child; Child, Preschool; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; Disability; DNA-Binding Proteins - chemistry; DNA-Binding Proteins - genetics; Enteral nutrition; Exome; Facies; Female; Gene Order; Genomes; High-Throughput Nucleotide Sequencing; Humans; Infant; Learning disabilities; Learning Disabilities - diagnosis; Learning Disabilities - genetics; Magnetic Resonance Imaging; Models, Molecular; Mutation; New Loci; Parents & parenting; Patients; Phenotype; Protein Conformation; Transcription Factors - chemistry; Transcription Factors - genetics; White people; Developmental; Neurology; Epilepsy and seizures; Clinical genetics

Background De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios. Methods The Deciphering Developmental Disorders study is using whole exo...