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Orphanet Journal of Rare Diseases

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Open Access 01-12-2011 | Research

Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Authors: Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki, Hannele Laivuori

Published in: Orphanet Journal of Rare Diseases | Issue 1/2011

Abstract

Background

Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field, the cause of the disorder for the majority of patients is still unknown. A recent report of partial SHOX duplications in five patients with MA has motivated us to further evaluate their role in the disorder. Therefore we have studied SHOX copy number variations (CNVs) in a cohort of 101 Finnish patients with MA and in 115 healthy controls.

Methods

We used multiplex ligation-dependent probe amplification (MLPA) to study SHOX CNVs.

Results

All patients showed normal amplification of SHOX. Several aberrations, duplications and deletions, were found downstream of the gene in five patients and seven controls, but these were all copy number polymorphisms.

Conclusions

Our study in an extensive cohort of patients with MA does not support a role for SHOX CNVs in the aetiology of the disorder. Further studies in the field are important for both patients looking for answers as well as for the scientific community for better understanding the regulation of the female reproductive duct development.

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Title: Evaluation of SHOX copy number variations in patients with Müllerian aplasia
Authors: Maria Sandbacka
Mervi Halttunen
Varpu Jokimaa
Kristiina Aittomäki
Hannele Laivuori
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2011
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-6-53

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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