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

Rao, Ercole; Weiss, Birgit; Fukami, Maki; Rump, Andreas; Niesler, Beate; Mertz, Annelyse; Muroya, Koji; Binder, Gerhard; Kirsch, Stefan; Winkelmann, Martina; Nordsiek, Gabriele; Heinrich, Udo; Breuning, Martijn H.; Ranke, Michael B.; Rosenthal, André; Ogata, Tsutomu; Rappold, Gudrun A.

doi:10.1038/ng0597-54

Cited by 943Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGrowth Hormone and Insulin-like Growth FactorsGenomics and Rare Diseases

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

Rao, Ercole, Weiss, Birgit, Fukami, Maki, Rump, Andreas, Niesler, Beate, Mertz, Annelyse, Muroya, Koji, Binder, Gerhard +9 more·1997·Nature Genetics

DOI 10.1038/ng0597-54

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Abstract

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 the relatives with normal stature or in a further 30 individuals with rearrangements on Xp22 or Yp11.3 with normal height. We have isolated a homeobox-containing gene (SHOX) from this region, which has at least two alternatively spliced forms, encoding proteins with different patterns of expression. We also identified one functionally significant SHOX mutation by screening 91 individuals with idiopathic short stature. Our data suggest an involvement of SHOX in idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients.

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Absence of the SHOX gene in the pseudo-autosomal regions of the X chromosome is primarily responsible for the short stature and skeletal dysplasia in TS.
“Absence of the short stature homeobox-containing (SHOX) gene in the pseudo-autosomal regions of the X chromosome is primarily responsible for the short stature and skeletal dysplasia in TS.7,145”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [7]

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Authors: Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., Nordsiek, G., Heinrich, U., Breuning, M. H., Ranke, M. B., Rosenthal, A., Ogata, T., & Rappold, G. A.
Affiliations: Heidelberg University (DE)
Keio University (JP)
University Children's Hospital Tübingen (DE)
Leiden University (NL)
Corresponding author: Rappold, Gudrun A.
ORCID: Rao, Ercole
Fukami, Maki
Rump, Andreas
Niesler, Beate
Muroya, Koji
Binder, Gerhard
Kirsch, Stefan
Breuning, Martijn H.
Ranke, Michael B.
Ogata, Tsutomu
Rappold, Gudrun A.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1997-05
Volume: 16
Issue: 1
Pages: 54-63
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0597-54
OpenAlex: W2005759400
Cited by: 943
References: 64
Citations by year: 2026: 23 · 2025: 15 · 2024: 23 · 2023: 30 · 2022: 20 · 2021: 20 · 2020: 31 · 2019: 28 · 2018: 22 · 2017: 23 · 2016: 31 · 2015: 26 · 2014: 29 · 2013: 41 · 2012: 33
FWCI: 22.22
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: pseudoautosomal region 1, SHOX, homeobox genes, idiopathic short stature, Turner syndrome, growth retardation, alternative splicing
MeSH terms: Short Stature Homeobox Protein, Adolescent, Amino Acid Sequence, Base Sequence, Body Height, Child, Chromosome Mapping, Cloning, Molecular, Female, Genes, Homeobox, Growth Disorders, Humans, Infant, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Pregnancy, Tissue Distribution, Turner Syndrome, X Chromosome, Y Chromosome, Gene Deletion, Sequence Analysis, DNA, Homeodomain Proteins

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

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