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Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis
Joint Authors
Wedell, Anna
Barbaro, Michela
Lagerstedt-Robinson, Kristina
Cook, Jackie
Source
International Journal of Endocrinology
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-02-28
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated.
The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed.
Most patients present gonadal dysgenesis within a more complex phenotype.
However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively small NR0B1 locus duplications.
We have identified another NR0B1 duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern.
We performed X-inactivation studies in three fertile female carriers of three different small NR0B1 locus duplications identified by our group.
The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting that NR0B1 overexpression does not impair ovarian function.
We furthermore emphasize the importance to investigate the NR0B1 locus also in patients with isolated XY gonadal dysgenesis.
American Psychological Association (APA)
Barbaro, Michela& Cook, Jackie& Lagerstedt-Robinson, Kristina& Wedell, Anna. 2012. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. International Journal of Endocrinology،Vol. 2012, no. 2012, pp.1-7.
https://search.emarefa.net/detail/BIM-476921
Modern Language Association (MLA)
Barbaro, Michela…[et al.]. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. International Journal of Endocrinology No. 2012 (2012), pp.1-7.
https://search.emarefa.net/detail/BIM-476921
American Medical Association (AMA)
Barbaro, Michela& Cook, Jackie& Lagerstedt-Robinson, Kristina& Wedell, Anna. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. International Journal of Endocrinology. 2012. Vol. 2012, no. 2012, pp.1-7.
https://search.emarefa.net/detail/BIM-476921
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-476921