Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.
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.
Volk
Alexander
A
Department of Neurology, University Bonn, Bonn, Germany.
Karbasiyan
Mohsen
M
Semmler
Alexander
A
Todt
Unda
U
Urbach
Horst
H
Klockgether
Thomas
T
Linnebank
Michael
M
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*
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors