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.

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.

• Authors: Alexander Volk, Mohsen Karbasiyan, Alexander Semmler, Unda Todt, Horst Urbach, Thomas Klockgether, Michael Linnebank
• Journal: Birth defects research. Part A, Clinical and molecular teratology (Birth Defects Res A Clin Mol Teratol) Vol. 79 Issue 3 Pg. 249-51 (Mar 2007) ISSN: 1542-0752 [Print] United States
• PMID: 17183586 (Publication Type: Case Reports, Journal Article)

Chemical References

• Homeodomain Proteins
• MNX1 protein, human
• Transcription Factors

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adult
• Anal Canal (abnormalities)
• Frameshift Mutation
• Headache (diagnosis)
• Hirschsprung Disease (diagnosis)
• Homeodomain Proteins (genetics)
• Humans
• Low Back Pain (diagnosis)
• Lumbar Vertebrae (diagnostic imaging)
• Magnetic Resonance Imaging
• Male
• Meningocele (pathology)
• Mutation
• Pelvis (diagnostic imaging)
• Radiography
• Sacrum (abnormalities)
• Syndrome
• Transcription Factors (genetics)