Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 25439098.
- Also identified by DOI 10.1016/j.ajhg.2014.09.014 and PMC identifier 4225583.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical features of 5q31.3 microdeletion syndrome and de novo mutations in PURA, encoding transcriptional activator protein Pur-α, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- DNA-Binding Proteins
- Muscle Hypotonia
- Seizures
- Transcription Factors