title: De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.
abstract: OBJECTIVE
  To describe a Japanese patient with papillorenal syndrome (PRS) and to identify the genetic defect responsible for the disease.
  
  
  METHODS
  Interventional case report.
  
  
  METHODS
  Complete ophthalmologic and systemic examinations were performed, and direct genomic sequencing of the PAX2 gene.
  
  
  RESULTS
  Fundus examination of a 3-year-old Japanese girl showed atypical coloboma bilaterally. At 6 years of age, she presented with proteinuria, and renal ultrasonography showed hypoplastic kidneys bilaterally. Molecular genetic analysis of the PAX2 gene revealed a de novo heterozygous insertion of a G at position 619.
  
  
  CONCLUSIONS
  Our findings suggest that an abnormal development of the optic stalk led to the optic disk dysplasia in PAX2-associated PRS. This indicates that we should consider renal abnormalities when an atypical round coloboma is present. Molecular genetic analysis of the PAX2 gene in combination with renal ultrasonography can help in making an earlier diagnosis of the disease.
authors.affiliation: Department of Ophthalmology, Fukuoka Children's Hospital and Medical Center for Infectious Diseases, Fukuoka, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Yoshimura
authors.forename: Shigeo
authors.initials: S
authors.lastname: Yoshida
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yamaji
authors.forename: Aiko
authors.initials: A
authors.lastname: Komori
authors.forename: Ayako
authors.initials: A
authors.lastname: Yoshida
authors.forename: Ken
authors.initials: K
authors.lastname: Hatae
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kubota
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Ishibashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D020125:Mutation, Missense; D009898:Optic Disk / Q000002:abnormalities*; D009900:Optic Nerve / Q000002:abnormalities; D051762:PAX2 Transcription Factor; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors