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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Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia. / Volk, Alexander; Karbasiyan, Mohsen; Semmler, Alexander; Todt, Unda; Urbach, Horst; Klockgether, Thomas; Linnebank, Michael.
In: BIRTH DEFECTS RES A, Vol. 79, No. 3, 03.2007, p. 249-51.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
AU - Volk, Alexander
AU - Karbasiyan, Mohsen
AU - Semmler, Alexander
AU - Todt, Unda
AU - Urbach, Horst
AU - Klockgether, Thomas
AU - Linnebank, Michael
PY - 2007/3
Y1 - 2007/3
N2 - 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.
AB - 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.
KW - Abnormalities, Multiple
KW - Adult
KW - Anal Canal
KW - Frameshift Mutation
KW - Headache
KW - Hirschsprung Disease
KW - Homeodomain Proteins
KW - Humans
KW - Low Back Pain
KW - Lumbar Vertebrae
KW - Magnetic Resonance Imaging
KW - Male
KW - Meningocele
KW - Mutation
KW - Pelvis
KW - Sacrum
KW - Syndrome
KW - Transcription Factors
U2 - 10.1002/bdra.20340
DO - 10.1002/bdra.20340
M3 - SCORING: Journal article
C2 - 17183586
VL - 79
SP - 249
EP - 251
JO - BIRTH DEFECTS RES A
JF - BIRTH DEFECTS RES A
SN - 1542-0752
IS - 3
ER -