Human Genetics

, Volume 97, Issue 1, pp 39–44

Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X

  • Claudia Geerkens
  • Walter Just
  • Karsten R. Held
  • Walther Vogel
Original Investigation

DOI: 10.1007/BF00218830

Cite this article as:
Geerkens, C., Just, W., Held, K.R. et al. Hum Genet (1996) 97: 39. doi:10.1007/BF00218830

Abstract

Ullrich-Turner syndrome (UTS) is frequently associated with monosomy X but may also occur with structural aberrations of the X and the Y chromosomes. It has been hypothesized that the ribosomal protein genes RPS4X and RPS4Y play a critical role in the prevention of UTS. Individual patients with a 46,X,i(Xq) karyotype cannot be differentiated phenotypically from 45,X UTS patients and carry three gene copies of RPS4X. Since haploinsufficiency of one or several gene(s) is thought to cause the UTS phenotype, direct assessment of RPS4X expression levels in these patients should establish whether RPS4X is involved in UTS. We have investigated fibroblasts of four 46,X,i(Xq) UTS patients with typical symptoms and a non-mosaic chromosome complement, and have found significantly increased RPS4X mRNA levels in all patients. Based on our results, we conclude that haploinsufficiency of RPS4X is not the cause of UTS.

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Claudia Geerkens
    • 1
  • Walter Just
    • 1
  • Karsten R. Held
    • 2
  • Walther Vogel
    • 1
  1. 1.Abteilung Medizinische Genetik der Universität UlmUlmGermany
  2. 2.Abteilung Cytogenetik, Institut für Humangenetik der UniversitätHamburgGermany

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