title: Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.
abstract: BACKGROUND
  The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and presacral masses. Mutations in the homeoboxHLXB9 gene have already been described in a subset of sacrococcygeal anomalies characterized by partial sacral agenesis.
  
  
  METHODS
  We report a 28-year-old male patient with Currarino syndrome due to a heterozygous novel frame-shift mutation c.336dupG (p.P113fsX224) in the homeoboxHLXB9 gene.
  
  
  CONCLUSIONS
  Molecular diagnostics may be helpful in cases of Hirschsprung's disease accompanied by other symptoms suggestive for Currarino syndrome, since it can lead to major complications such as perianal sepsis, meningitis, and malignant transformation.
authors.affiliation: Department of Neurology, University Bonn, Bonn, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Volk
authors.forename: Mohsen
authors.initials: M
authors.lastname: Karbasiyan
authors.forename: Alexander
authors.initials: A
authors.lastname: Semmler
authors.forename: Unda
authors.initials: U
authors.lastname: Todt
authors.forename: Horst
authors.initials: H
authors.lastname: Urbach
authors.forename: Thomas
authors.initials: T
authors.lastname: Klockgether
authors.forename: Michael
authors.initials: M
authors.lastname: Linnebank
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D016368:Frameshift Mutation; D006261:Headache / Q000175:diagnosis; D006627:Hirschsprung Disease / Q000175:diagnosis*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017116:Low Back Pain / Q000175:diagnosis; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000473:pathology; D009154:Mutation; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D012447:Sacrum / Q000002:abnormalities; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors