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

Sarina G. Kant; Hetty J. van der Kamp; Marjolein Kriek; Egbert Bakker; Boudewijn Bakker; Mariette J. V. Hoffer; Patrick van Bunderen; Monique Losekoot; Saskia M. Maas; Jan M. Wit; Gudrun Rappold; Martijn H. Breuning

doi:https://doi.org/10.1210/jc.2010-1505

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

Sarina G. Kant, Hetty J. van der Kamp, Marjolein Kriek, Egbert Bakker, Boudewijn Bakker, Mariette J. V. Hoffer, Patrick van Bunderen, Monique Losekoot, Saskia M. Maas, Jan M. Wit, Gudrun Rappold, Martijn H. Breuning

Paediatric Genetics (AMC)

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

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

Original language	English
Pages (from-to)	E356-E359
Journal	Journal of clinical endocrinology and metabolism
Volume	96
Issue number	2
DOIs	https://doi.org/10.1210/jc.2010-1505
Publication status	Published - 2011

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Cite this

Kant, S. G., van der Kamp, H. J., Kriek, M., Bakker, E., Bakker, B., Hoffer, M. J. V., van Bunderen, P., Losekoot, M., Maas, S. M., Wit, J. M., Rappold, G., & Breuning, M. H. (2011). The Jumping SHOX Gene--Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis. Journal of clinical endocrinology and metabolism, 96(2), E356-E359. https://doi.org/10.1210/jc.2010-1505

@article{4850bedeb991490abad48ce013bdd3f5,

title = "The Jumping SHOX Gene--Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis",

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",

author = "Kant, {Sarina G.} and {van der Kamp}, {Hetty J.} and Marjolein Kriek and Egbert Bakker and Boudewijn Bakker and Hoffer, {Mariette J. V.} and {van Bunderen}, Patrick and Monique Losekoot and Maas, {Saskia M.} and Wit, {Jan M.} and Gudrun Rappold and Breuning, {Martijn H.}",

year = "2011",

doi = "https://doi.org/10.1210/jc.2010-1505",

language = "English",

volume = "96",

pages = "E356--E359",

journal = "Journal of clinical endocrinology and metabolism",

issn = "0021-972X",

publisher = "Oxford University Press",

number = "2",

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Kant, SG, van der Kamp, HJ, Kriek, M, Bakker, E, Bakker, B, Hoffer, MJV, van Bunderen, P, Losekoot, M, Maas, SM, Wit, JM, Rappold, G & Breuning, MH 2011, 'The Jumping SHOX Gene--Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis', Journal of clinical endocrinology and metabolism, vol. 96, no. 2, pp. E356-E359. https://doi.org/10.1210/jc.2010-1505

TY - JOUR

T1 - The Jumping SHOX Gene--Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

AU - Kant, Sarina G.

AU - van der Kamp, Hetty J.

AU - Kriek, Marjolein

AU - Bakker, Egbert

AU - Bakker, Boudewijn

AU - Hoffer, Mariette J. V.

AU - van Bunderen, Patrick

AU - Losekoot, Monique

AU - Maas, Saskia M.

AU - Wit, Jan M.

AU - Rappold, Gudrun

AU - Breuning, Martijn H.

PY - 2011

Y1 - 2011

N2 - 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

AB - 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

U2 - https://doi.org/10.1210/jc.2010-1505

DO - https://doi.org/10.1210/jc.2010-1505

M3 - Article

C2 - 21068148

SN - 0021-972X

VL - 96

SP - E356-E359

JO - Journal of clinical endocrinology and metabolism

JF - Journal of clinical endocrinology and metabolism

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