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Author’s Response: SHOX—A Geneticist’s View

Department of Pediatrics, Oregon Health and Science University, Portland, Oregon 97201

Address correspondence to: Ron G. Rosenfeld, M.D., Department of Pediatrics, Oregon Health and Science University, 707 SW Gaines Road, Portland, Oregon 97201-3098. E-mail: . rosenfer{at}ohsu.edu

To the editor:

Dr. Rappold’s comments concerning SHOX are well taken, and the geneticist’s view is always worthwhile. I am in agreement with the point that SHOX should not be considered a classical X-linked gene, because it can also be found on the pseudoautosomal region of the Y-chromosome; male-male transmission of SHOX abnormalities can occur, although the apparent female:male preponderance in SHOX abnormalities reported by Ross et al. (1) still requires explanation.

The issue of the role of haploinsufficiency for SHOX as an explanation for the short stature of Turner syndrome (TS) remains complex. In the paper by Ross et al. (1), the mean height of the Leri-Weill dyschondrosteosis (LWD) patients was -2.2 SD, compared with -3.2 SD for TS. Although Dr. Rappold may well be correct about the biases in the patient selection used by Ross et al. (1), it is not clear that this provides the entire explanation for the disparity in height between LWD and TS, because delayed epiphyseal fusion in many TS girls may result in a late adolescent improvement in height SD score. Thus, comparisons of adult height do not necessarily tell the whole story, and careful analysis of the growth characteristics of LWD and TS patients throughout childhood and adolescence is required. Nevertheless, it is clear that SHOX plays an important role in normal growth, is fundamental to the skeletal and growth abnormalities of LWD, and is a major contributor to the short stature characteristics of TS.

Received January 1, 2002.

References

1. Ross JL, Scott Jr C, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR 2001 Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 86:5674–5680[Abstract/Free Full Text]

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