Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

Fertility and Sterility
Mariana Moysés-OliveiraMaria Isabel Melaragno

Abstract

To map the X-chromosome and autosome breakpoints in women with balanced X-autosome translocations and primary amenorrhea, searching candidate genomic loci for female infertility. Retrospective and case-control study. University-based research laboratory. Three women with balanced X-autosome translocation and primary amenorrhea. Conventional cytogenetic methods, genomic array, array painting, fluorescence in situ hybridization, and quantitative reverse transcription-polymerase chain reaction. Karyotype, copy number variation, breakpoint mapping, and gene expression levels. All patients presented with breakpoints in the Xq13q21 region. In two patients, the X-chromosome breakpoint disrupted coding sequences (KIAA2022 and ZDHHC15 genes). Although both gene disruptions caused absence of transcription in peripheral blood, there is no evidence that supports the involvement of these genes with ovarian function. The ZDHHC15 gene belongs to a conserved syntenic region that encompasses the FGF16 gene, which plays a role in female germ line development. The break in the FGF16 syntenic block may have disrupted the interaction between the FGF16 promoter and its cis-regulatory element. In the third patient, although both breakpoints are inter...Continue Reading

References

Oct 1, 1990·Human Genetics·E ThermanB Susman
Jul 14, 2001·American Journal of Medical Genetics·S L Sherman
Aug 2, 2002·Biochimica Et Biophysica Acta·Xiaojuan DuRoland Schüle
Sep 5, 2002·American Journal of Medical Genetics·David SchlessingerAntonino Forabosco
May 9, 2003·American Journal of Human Genetics·Vera M KalscheuerJozef Gécz
May 26, 2005·European Journal of Human Genetics : EJHG·Mahmoud Reza MansouriNiklas Dahl
May 28, 2005·Human Reproduction Update·Deepti Goswami, Gerard S Conway
Sep 13, 2005·Human Molecular Genetics·Nadav AhituvOlivier Couronne
Jun 6, 2006·Human Reproduction·M F PortnoïS Christin-Maitre
Feb 24, 2007·Cytogenetic and Genome Research·L BackxJ R Vermeesch
Feb 8, 2008·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Anja WeiseNadezda Kosyakova
Sep 9, 2008·Human Genetics·Acácia Fernandes Lacerda de CarvalhoMaria Isabel Melaragno
Jul 30, 2010·Journal of Molecular Endocrinology·Luca PersaniChiara Cacciatore
Dec 29, 2010·Archives of Gynecology and Obstetrics·Emerson Barchi CordtsCaio Parente Barbosa
Jul 17, 2012·Molecular Cytogenetics·Simona BaronchelliLeda Dalprà
Apr 4, 2013·Molecular Cytogenetics·Nadezda KosyakovaEmel Ergul

❮ Previous
Next ❯

Citations

Aug 21, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Mariana Moysés-OliveiraMaria Isabel Melaragno
Apr 30, 2016·Taiwanese Journal of Obstetrics & Gynecology·Ana I Vásquez-VelásquezJosé E García-Ortiz
Dec 2, 2017·Human Mutation·Mariana Moysés-OliveiraAlexandre Reymond
Feb 1, 2019·European Journal of Human Genetics : EJHG·Mariana Moysés-OliveiraMaria Isabel Melaragno
Apr 6, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Svetlana A YatsenkoAleksandar Rajkovic
Mar 16, 2018·Journal of Human Genetics·Sylvie JaillardCélia Ravel

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autism: Treatment Targets

The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological mechanisms, and the lack of reliable diagnostic biomarkers. Identification of more homogenous biological subgroups is therefore essential for the development of novel treatments based on the molecular mechanisms underpinning autism and autism spectrum disorders. Find the latest research on autism treatment targets here.

Aphasia

Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.