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J Med Genet. 2007 April; 44(4): e75.
PMCID: PMC2598048

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

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 duplications2,3 (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 in affected males from control families,2,3 but not in affected males from families A, B and C. On the basis of these new data, we now cannot replicate the observation of duplications in families A, B and C families that was published in our paper.

Footnotes

Competing interests: None declared.

References

1. Solomon N M, Ross S A, Morgan T, Belsky J L, Hol F A, Karnes P S, Hopwood N J, Myers S E, Tan A S, Warne G L, Forrest S M, Thomas P Q. Array comparative genomic hybridisation analysis of males with X‐linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J Med Genet 2004. 41669–678.678 [PMC free article] [PubMed]
2. Lagerström‐Fermér M, Sundvall M, Johnsen E, Warne G L, Forrest S M, Zajac J D, Rickards A, Ravine D, Landegren U, Pettersson U. X‐linked recessive panhypopituitarism associated with a regional duplication in Xq25‐q26. Am J Hum Genet 1997. 60910–916.916 [PubMed]
3. Hol F A, Schepens M T, van Beersum S E, Affer M, Vezzoni P, Hamel B C, Karnes P S, Mariman E C, Zucchi I. Identification and characterisation of an Xq26‐q27 duplication in a family with Spina‐Bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics 2000. 69174–181.181 [PubMed]
4. Bauters M, Van Esch H, Marynen P, Froyen G. X chromosome array‐CGH for the identification of novel X‐linked mental retardation genes. Eur J Med Genet 2005. 48263–275.275 [PubMed]

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