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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defect...

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Autores principales: Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777856/
https://www.ncbi.nlm.nih.gov/pubmed/19889212
http://dx.doi.org/10.1186/1750-1172-4-25
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author Bernardini, Laura
Gimelli, Stefania
Gervasini, Cristina
Carella, Massimo
Baban, Anwar
Frontino, Giada
Barbano, Giancarlo
Divizia, Maria Teresa
Fedele, Luigi
Novelli, Antonio
Béna, Frédérique
Lalatta, Faustina
Miozzo, Monica
Dallapiccola, Bruno
author_facet Bernardini, Laura
Gimelli, Stefania
Gervasini, Cristina
Carella, Massimo
Baban, Anwar
Frontino, Giada
Barbano, Giancarlo
Divizia, Maria Teresa
Fedele, Luigi
Novelli, Antonio
Béna, Frédérique
Lalatta, Faustina
Miozzo, Monica
Dallapiccola, Bruno
author_sort Bernardini, Laura
collection PubMed
description BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. METHODS AND RESULTS: we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. CONCLUSION: Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.
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spelling pubmed-27778562009-11-17 Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Bernardini, Laura Gimelli, Stefania Gervasini, Cristina Carella, Massimo Baban, Anwar Frontino, Giada Barbano, Giancarlo Divizia, Maria Teresa Fedele, Luigi Novelli, Antonio Béna, Frédérique Lalatta, Faustina Miozzo, Monica Dallapiccola, Bruno Orphanet J Rare Dis Research BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. METHODS AND RESULTS: we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. CONCLUSION: Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects. BioMed Central 2009-11-04 /pmc/articles/PMC2777856/ /pubmed/19889212 http://dx.doi.org/10.1186/1750-1172-4-25 Text en Copyright © 2009 Bernardini et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Bernardini, Laura
Gimelli, Stefania
Gervasini, Cristina
Carella, Massimo
Baban, Anwar
Frontino, Giada
Barbano, Giancarlo
Divizia, Maria Teresa
Fedele, Luigi
Novelli, Antonio
Béna, Frédérique
Lalatta, Faustina
Miozzo, Monica
Dallapiccola, Bruno
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
title Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
title_full Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
title_fullStr Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
title_full_unstemmed Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
title_short Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
title_sort recurrent microdeletion at 17q12 as a cause of mayer-rokitansky-kuster-hauser (mrkh) syndrome: two case reports
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777856/
https://www.ncbi.nlm.nih.gov/pubmed/19889212
http://dx.doi.org/10.1186/1750-1172-4-25
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