Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism
Date
2002
Authors
Solomon, N.
Nouri, S.
Warne, G.
Lagerstrom-Fermer, M.
Forrest, S.
Thomas, P.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Genomics, 2002; 79(4):553-559
Statement of Responsibility
Nicola M. Solomon, Sara Nouri, Garry L. Warne, Maria Lagerstrom-Fermer, Susan M. Forrest, and Paul Q. Thomas
Conference Name
Abstract
We have identified a novel interstitial duplication at Xq26.1–q27.3 in a previously reported family with X-linked recessive hypopituitarism [1]. Mapping of the duplication was carried out using interphase FISH analysis of over 60 bacterial genomic clones from Xq25–q28. The proximal and distal breakpoints of the duplication are contained within the 432N13 and 91O18 clones, respectively, and are separated by approximately 9 Mb. Comparison with a recently published 13-Mb duplication in another XH family [2] indicated that the duplication breakpoints in these families were different. Therefore, we conclude that X-linked hypopituitarism is caused by increased dosage of a gene that is critical for pituitary development and that the causative gene is located within the 9-Mb duplicated region that we have defined.