X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.

Molecular Cytogenetics
Susana I FerreiraIsabel M Carreira

Abstract

Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele's carrier women have an increased risk for POF. We intent to determine the cause of POF in a 29 year old female, evaluating both of these situations. Concomitant analysis of FMR1 gene CGG repeat number and karyotype revealed an X-chromosome terminal deletion. Fluorescence in situ further characterized the breakpoint. A methylation assay for FMR1 gene allowed to determine its methylation status, and hence, the methylation status of the normal X-chromosome. We report a POF patient with a 46,X,del(X)(q26) karyotype and with skewed X-chromosome inactivation of the structural abnormal X-chromosome. Despite the hemizygosity of FMR1 gene, the patient does not present Fragile X syndrome features, since the normal X-chromosome is not subject to methylation. The described deletion supports the hypothesis that haploinsufficiency of X-linked genes can be on the basis of POF, and special attention should be paid to X-linked genes in region Xq28 since they escape inactivation and might have a role in this disorder. A full clinical and cytogenetic characterization of all POF cases is important to highlight a pattern and help ...Continue Reading

References

Mar 1, 1991·Fertility and Sterility·T F VenemanP Mollevanger
Oct 1, 1990·Human Genetics·E ThermanB Susman
Jul 16, 1987·The New England Journal of Medicine·C M KraussD C Page
Jan 1, 1982·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·P RussellP Corbett
Aug 18, 1999·Cytogenetics and Cell Genetics·A T TharapelR S Wilroy
Mar 23, 2000·American Journal of Medical Genetics·J L Simpson, A Rajkovic
Feb 8, 2003·Acta Paediatrica. Supplement·M F Lyon
Jul 29, 2004·European Journal of Human Genetics : EJHG·Francesca RossettiDaniela Toniolo
Sep 10, 2004·The Journal of Clinical Endocrinology and Metabolism·C K WeltA E Taylor
Dec 21, 2004·Human Reproduction·A K SullivanS L Sherman
May 28, 2005·Human Reproduction Update·Deepti Goswami, Gerard S Conway
May 3, 2006·Current Opinion in Genetics & Development·Daniela Toniolo
May 26, 2006·Orphanet Journal of Rare Diseases·Paolo Beck-Peccoz, Luca Persani
Jun 6, 2006·Human Reproduction·M F PortnoïS Christin-Maitre
Apr 13, 2007·BMC Medical Genetics·Maria Giuseppina MianoMatilde Valeria Ursini
Feb 8, 2008·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Anja WeiseNadezda Kosyakova
May 8, 2008·Current Opinion in Obstetrics & Gynecology·J Ryan Martin, Aydin Arici

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Citations

Jul 17, 2012·Molecular Cytogenetics·Simona BaronchelliLeda Dalprà
May 29, 2013·Haemophilia : the Official Journal of the World Federation of Hemophilia·S RostC R Müller
Nov 19, 2015·Journal of Ovarian Research·Johnny S YounisIzhar Ben-Shlomo
Apr 10, 2021·Frontiers in Cell and Developmental Biology·Linlin LiuLin Liu

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Methods Mentioned

BETA
PCR
electrophoresis
present
after

Software Mentioned

Genescan
Coffalyser
MetaSystems ( Isis )

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