Mutations involving PURA can result in a number of clinical findings.
Chromosomal location: 5q31.3
Protein: PURA (purine rich element binding protein A or alpha)
Function: single-stranded DNA binding protein involved in DNA replication and transcription
Clinical findings may include:
(1) neonatal hypotonia with delayed walking
(2) feeding difficulties
(3) global developmental delay
(4) severe intellectual disability
(5) impaired language
(6) apnea
(7) epilepsy
(8) GERD
(9) nystagmus
(10) autism
(11) skeletal abnormalities (scoliosis, hip dysplasia, osteopenia)
Deletions of the gene may be associated with myelodysplasia and acute myelogenous leukemia.
