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

Wiener klinische Wochenschrift
Gerda HofstetterAndreas Janecke

Abstract

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.

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Citations

Mar 12, 2013·Case Reports in Genetics·Anna Dabkowska-HucAntoni Pyrkosz
Apr 30, 2010·Women's Health·Mohamed-Ashraf M HassanGeoffrey H Trew
Nov 5, 2011·Journal of Pediatric and Adolescent Gynecology·N KimberleyS R Grover
Feb 11, 2019·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Ann-Christin TewesSusanne Ledig
Aug 15, 2017·Biomedical Reports·Keiko WatanabeDaisuke Aoki

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