Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

@article{Rao1997PseudoautosomalDE,
  title={Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome},
  author={Ercole Rao and Birgit Weiss and Maki Fukami and Andreas Rump and Beate Niesler and Annelyse Mertz and Koji Muroya and Gerhard Binder and Stefan Kirsch and M. Winkelmann and Gabriele Nordsiek and Udo E. Heinrich and Martijn H. Breuning and Michael B. Ranke and Andr{\'e} Rosenthal and Tsutomu Ogata and Gudrun A. Rappold},
  journal={Nature Genetics},
  year={1997},
  volume={16},
  pages={54-63}
}
Growth retardation resulting in short stature is a major concern for parents and due to its great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved in linear growth has been implicated within the pseudoautosomal region (PAR1) of the human sex chromosomes. We have determined an interval of 170 kb of DNA within PAR1 which was deleted in 36 individuals with short stature and different rearrangements on Xp22 or Yp11.3. This deletion was not detected in any of… 
Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.
TLDR
It is concluded that haploinsufficiency for this gene is responsible for the growth failure in a 10-year-old boy with idiopathic short stature who was found to have a unique Y;13 translocation.
Short Stature Homeobox-Containing (SHOX) Gene Deficiency: Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome
TLDR
Recombinant human growth hormone (GH) was demonstrated to be effective in improving the growth of patients with isolated SHOX deficiency during a 2-year randomized, controlled clinical trial; the study demonstrated similar efficacy in patients with Leri–Weill and Turner syndromes.
SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.
  • T. Ogata
  • Biology, Medicine
    Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
  • 1999
Trisomy of the short stature homeobox‐containing gene (SHOX), resulting from a duplication‐deletion of the X chromosome
TLDR
The relationship between levels of SHOX expression and human stature is suggested to be more complex than envisaged previously, and the presence of normal stature in the patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
TLDR
The prevalence of short stature due to SHOX gene mutations among children with short stature appears to be similar to that of GH deficiency or Turner syndrome.
Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature
TLDR
It is proposed that in some cases of trisomy for the SHOX gene, the effect of overdosage per se may affect the stature, even in patients with preserved ovarian function, and that estrogen deprivation may not always be a contributor for tall stature.
Unexpected Phenotype in a Boy with Trisomy of the SHOX Gene
TLDR
The hypothesis is that this chromosome re-arrangement disrupts the regular interaction between the enhancer and promoter, resulting in a transcription block, thus producing a lack of gene activation, causing the clinical feature of short stature.
Molecular cytogenetic analysis of a Xp21.3‐pter deletion in a family with normal and short stature
TLDR
Clinical manifestations and molecular cytogenetic analysis in a mother and three of her daughters with deletion Xp21, and the effects of growth hormone therapy on the affected children are reported.
Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.
TLDR
The data suggest that short stature due to SHOX deletions is not a rare entity and in cases of unexplained growth failure, especially if associated with any mild skeletal disproportions, genetic analysis of SHOX should be considered.
Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).
TLDR
This case report illustrates that contiguous gene syndrome related to the Xpter region may have an atypical clinical presentation and the usefulness of combined clinical, biochemical, molecular, and fluorescence in situ hybridization analysis.
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