Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
✍ Scribed by Alexander Volk; Mohsen Karbasiyan; Alexander Semmler; Unda Todt; Horst Urbach; Thomas Klockgether; Michael Linnebank
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 355 KB
- Volume
- 79
- Category
- Article
- ISSN
- 1542-0752
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✦ Synopsis
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 homeobox__HLXB9__ 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 homeobox__HLXB9__ 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. Birth Defects Research (Part A), 2007. © 2006 Wiley‐Liss, Inc.