Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)

  • Gerda Hofstetter
  • Nicole Concin
  • Christian Marth
  • Tuula Rinne
  • Martin Erdel
  • Andreas Janecke
Case Report

Summary

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by the congenital absence of uterus and upper part of the vagina as a result of Mullerian duct agenesis. The combination of MRKH syndrome with renal anomalies and cervicothoracic dysplasia is known as MURCS association (Mullerian aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia). The etiology remains poorly understood. We delineate this disease by reporting on a 16-year-old patient showing the cardinal features of MURCS association accompanied by a persistent left superior vena cava and atrial septal defect, orofacial clefting, and mild reduction deformities of the left hand. Fluorescence in situ hybridization did not show major deletions or duplications of the DiGeorge/VCFS (velocardiofacial syndrome) region at chromosome 22q11.1 as well as the TBX5/TBX3 region at 12q24.1. In addition, sequencing of the TP63L (p63) gene, residing at 3q27, remained normal in the presented patient. Thus, we provide further evidence for the genetic heterogeneity of MURCS association.

Keywords

MURCS 22q11 TBX5 TBX3 p63 

Genetische Analysen bei einer Variante des Mayer-Rokitansky-Küster-Hauser Syndroms (MURCS-Assoziation)

Zusammenfassung

Das Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrom ist durch das kongenitale Fehlen von Uterus und oberem Vaginalanteil charakterisiert, was auf eine embryonale Entwicklungsstörung der Müller-Gänge zurückzuführen ist. Die Kombination des MRKH Syndroms mit renalen und zervikothorakalen Fehlbildungen wird als MURCS-Assoziation bezeichnet. Die Ätiologie ist unklar. Wir stellen dieses Krankheitsbild anhand des Fallberichts einer 16-jährigen Patientin vor, die zusätzlich zu den Leitsymptomen der MURCS-Assoziation eine persistierende linke Vena cava superior und einen Vorhofseptumdefekt, eine Lippen-Kiefer-Gaumenspalte und Handfehlbildungen aufwies. Fluoreszenz-in-situ-Hybridisierung (FISH) zeigte im vorliegenden Fall keine größeren Deletionen oder Duplikationen der DiGeorge/VCFS (velocardiofacial syndrome) Region auf Chromosom 22q11.1 sowie der TBX5/TBX3 Region auf Chromosom 12q24.1. Die Sequenzierung des TP63L (p63) Gens auf Chromosom 3q27 blieb ebenfalls unauffällig. Unsere Untersuchungen liefern somit weitere Hinweise für die genetische Heterogenität der MURCS-Assoziation.

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Gerda Hofstetter
    • 1
  • Nicole Concin
    • 1
  • Christian Marth
    • 1
  • Tuula Rinne
    • 2
  • Martin Erdel
    • 3
  • Andreas Janecke
    • 3
  1. 1.Department of Gynecology and ObstetricsInnsbruck Medical UniversityInnsbruckAustria
  2. 2.Department of Human GeneticsRadboud University Nijmegen Medical CenterNijmegenThe Netherlands
  3. 3.Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical PharmacologyInnsbruck Medical UniversityInnsbruckAustria

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