Document Detail

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.
MedLine Citation:
PMID:  17183586     Owner:  NLM     Status:  MEDLINE    
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. CASE: 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.
Alexander Volk; Mohsen Karbasiyan; Alexander Semmler; Unda Todt; Horst Urbach; Thomas Klockgether; Michael Linnebank
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  79     ISSN:  1542-0752     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-03-07     Completed Date:  2007-05-29     Revised Date:  2008-09-13    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  249-51     Citation Subset:  IM    
Department of Neurology, University Bonn, Bonn, Germany.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics
Anal Canal / abnormalities
Frameshift Mutation*
Headache / diagnosis
Hirschsprung Disease / diagnosis*
Homeodomain Proteins / genetics*
Low Back Pain / diagnosis
Lumbar Vertebrae / radiography
Magnetic Resonance Imaging
Meningocele / pathology
Pelvis / radiography
Sacrum / abnormalities
Transcription Factors / genetics*
Reg. No./Substance:
0/Homeodomain Proteins; 0/MNX1 protein, human; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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