Patient with a novel purine-rich element binding protein A mutation.
There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing. We suggest that PURA abnormality is a recognizable syndrome.
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Nobuhiko
N
Okamoto
Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan.
Hideto
H
Nakao
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Tetsuya
T
Niihori
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Yoko
Y
Aoki
D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000737:chemistry*; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D019066:Facies; D006801:Humans; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D065886:Neurodevelopmental Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics*; D000073359:Exome Sequencing
D004268:DNA-Binding Proteins; C501130:PURA protein, human; D014157:Transcription Factors
Intellectual disability; purine-rich element binding protein A; whole-exome sequencing