Molecular studies on the pathogenesis of idiopathic short stature : Analysis of a growth gene(s) on the X chromosome short arm.

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1.Chromosomal localisation of a pseudoautosomal growth gene(s)Molecular studies in a girl with short stature and rearranged X chromosome have assigned a growth gene(s) to the distal part of the pseudoautosomal region (an Xp-Yp homologous region). Furthermore, on the basis of genotype-phenotype correlations in six patients woth a partial monosomy of the pseudoautosomal region, we have mapped the growth bene(s) to the region between DXYS20 and DXYS15, which spans about 500 kb. In support of the presence of the pseudoautosomal growth gene(s), we have clarified that adult height in patients with sex chromosome aberrations is primarily determined by the dosage effect of the pseudoautosomal and the Y-specific growth genes and by the degree of growth disadvantage caused by quantitative alteration of euchromatic or non-inactivated region. Now, the positional cloning of the pseudoautosomal growth gene(s) is under progress.2. Molecular studies in patients with idiopathic short statureMolecular studies in about 30 patients with idiopathic short stature detected no deletion in the critical region for the growth gene(s)(DXYS20-DXYS15). These patients will be examined for a possible mutations of the pseudoautosomal growth gene(s), when the growth gene(s) has been cloned.