The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis-Reference-Cited by-同舟云学术

The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

Published:2011-02-01 Issue:2 Volume:96 Page:E356-E359
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Kant Sarina G.¹,van der Kamp Hetty J.²,Kriek Marjolein¹,Bakker Egbert³,Bakker Boudewijn²,Hoffer Mariette J. V.³,van Bunderen Patrick³,Losekoot Monique³,Maas Saskia M.⁴⁵,Wit Jan M.²,Rappold Gudrun⁶,Breuning Martijn H.¹

Affiliation:

1. Center for Human and Clinical Genetics (CHCG)-Department of Clinical Genetics (S.G.K., M.K., M.H.B.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;

2. Department of Paediatrics (H.J.v.d.K., B.B., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;

3. CHCG-Laboratory for Diagnostic Genome Analysis (E.B., M.J.v.H., P.v.B., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;

4. Departments of Clinical Genetics (S.M.M.) Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands;

5. Departments of Paediatrics (S.M.M.), Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands;

6. Departments of Human Molecular Genetics (G.R.), University of Heidelberg, 69120 Heidelberg, Germany

Abstract

abstract Context: During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa. Patients: Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia. Results: In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated. Conclusions: Patients with an abnormality of the SHOX gene should receive genetic counseling as to the likelihood that they may transmit the mutation or deletion to a son as well as to a daughter.

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/96/2/E356/9070010/jcemE356.pdf

Reference17 articles.

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4. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.;Benito-Sanz;Am J Hum Genet,2005

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