CORRESPONDENCE

Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Nicola M Solomon¹, Shelley A Ross¹, Susan M Forrest¹, Paul Q Thomas¹, Thomas Morgan², Joseph L Belsky², Frans A Hol³, Pamela S Karnes⁴, Nancy J Hopwood⁵, Susan E Myers⁶, Anjanette S Tan⁷, Garry L Warne⁸

¹ Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia
² Yale University School of Medicine, Department of Genetics, New Haven, USA
³ Department of Human Genetics, University Medical Center Nijmegen, The Netherlands
⁴ Mayo Clinic, University of Medical Genetics, Rochester, Minnesota, USA
⁵ University of Michigan Medical Center, Mississippi, USA
⁶ Saint Louis University, Missouri, USA
⁷ Division of Endocrinology, Diabetes, and Metabolism, University of Missouri-Columbia, Columbia, Missouri, USA
⁸ Department of Endocrinology, Royal Children’s Hospital, Melbourne, Australia

Received 7 January 2007

Accepted 9 January 2007

The first 150 words of the full text of this article appear below.

In our previous article,¹ we used array-comparative genomic hybridisation (CGH) analysis to identify Xq26–q27 duplications in families with X-linked hypopituitarism (XH). The array-CGH assay was validated using affected male genomic DNA from two previously characterised XH families that carry Xq26–q27 duplications^2,3 (fig 1B,C) and by interphase fluorescence in situ hybridisation (FISH) analysis (fig 2). Array-CGH analysis of three novel XH families, A, B and C (fig 3), indicated that each of these contained a different Xq26–q27 duplication (fig 1D–G).

Recently, we repeated these array-CGH experiments using a more extensive X chromosome array containing over 2000 bacterial artificial chromosome (BAC) clones.⁴ As expected, duplications were identified in males from the two previously characterised XH families.^2,3 However, we have been unable to detect Xq26–q27 duplications in affected males from families A, B and C. Furthermore, repeated quantitative real-time PCR experiments performed by an independent collaborator in a blinded assay detected SOX3 duplication . . . [Full text of this article]

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