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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

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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, Jahrgang 79, Nr. 3, 03.2007, S. 249-51.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Volk, A, Karbasiyan, M, Semmler, A, Todt, U, Urbach, H, Klockgether, T & Linnebank, M 2007, 'Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia', BIRTH DEFECTS RES A, Jg. 79, Nr. 3, S. 249-51. https://doi.org/10.1002/bdra.20340

APA

Volk, A., Karbasiyan, M., Semmler, A., Todt, U., Urbach, H., Klockgether, T., & Linnebank, M. (2007). Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia. BIRTH DEFECTS RES A, 79(3), 249-51. https://doi.org/10.1002/bdra.20340

Vancouver

Volk A, Karbasiyan M, Semmler A, Todt U, Urbach H, Klockgether T et al. Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia. BIRTH DEFECTS RES A. 2007 Mär;79(3):249-51. https://doi.org/10.1002/bdra.20340

Bibtex

@article{d27a5181f49e4c549d456f6a27b60a34,
title = "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.",
keywords = "Abnormalities, Multiple, Adult, Anal Canal, Frameshift Mutation, Headache, Hirschsprung Disease, Homeodomain Proteins, Humans, Low Back Pain, Lumbar Vertebrae, Magnetic Resonance Imaging, Male, Meningocele, Mutation, Pelvis, Sacrum, Syndrome, Transcription Factors",
author = "Alexander Volk and Mohsen Karbasiyan and Alexander Semmler and Unda Todt and Horst Urbach and Thomas Klockgether and Michael Linnebank",
year = "2007",
month = mar,
doi = "10.1002/bdra.20340",
language = "English",
volume = "79",
pages = "249--51",
journal = "BIRTH DEFECTS RES A",
issn = "1542-0752",
publisher = "Wiley-Liss Inc.",
number = "3",

}

RIS

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 -