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Volk, Alexander; Karbasiyan, Mohsen; Semmler, Alexander; Todt, Unda; Urbach, Horst; Klockgether, Thomas; Linnebank, Michael

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia

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  • Medientyp: E-Artikel
  • Titel: Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
  • Beteiligte: Volk, Alexander; Karbasiyan, Mohsen; Semmler, Alexander; Todt, Unda; Urbach, Horst; Klockgether, Thomas; Linnebank, Michael
  • Erschienen: Wiley, 2007
  • Erschienen in: Birth Defects Research Part A: Clinical and Molecular Teratology
  • Sprache: Englisch
  • DOI: 10.1002/bdra.20340
  • ISSN: 1542-0752; 1542-0760
  • Schlagwörter: Developmental Biology ; Embryology ; General Medicine ; Pediatrics, Perinatology and Child Health
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p><jats:bold>BACKGROUND:</jats:bold> 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<jats:italic>HLXB9</jats:italic> gene have already been described in a subset of sacrococcygeal anomalies characterized by partial sacral agenesis. <jats:bold>CASE:</jats:bold> 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<jats:italic>HLXB9</jats:italic> gene. <jats:bold>CONCLUSIONS:</jats:bold> 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.</jats:p>