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Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 of both sex chromosomes. Haploinsufficiency of SHOX leads to different phenotypes ranging from isolated short stature to Léri-Weill syndrome characterized by short stature, mesomelia and Madelung deformity. We describ...

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Main Authors: Evers, Christina (Author) , Heidemann, Ph (Author) , Dunstheimer, D (Author) , Schulze, E (Author) , Haag, C (Author) , Janssen, Johannes W. G. (Author) , Fischer, C (Author) , Jauch, Anna (Author) , Moog, Ute (Author)
Format: Article (Journal)
Language:English
Published: 07 April 2011
In: Clinical genetics
Year: 2011, Volume: 79, Issue: 5, Pages: 489-494
ISSN:1399-0004
DOI:10.1111/j.1399-0004.2010.01488.x
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/j.1399-0004.2010.01488.x
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.2010.01488.x
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Author Notes:C. Evers, P.H. Heidemann, D. Dunstheimer, E. Schulze, C. Haag, J.W.G. Janssen, C. Fischer, A. Jauch and U. Moog
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Summary:The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 of both sex chromosomes. Haploinsufficiency of SHOX leads to different phenotypes ranging from isolated short stature to Léri-Weill syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originally located on the Y chromosome and transmitted from father to daughter by crossover during meiosis. The male index patient presented with short stature, mesomelia and mild Madelung deformity. His father had a normal height but slightly disproportionate short legs. The sister of the index patient presented with marked Madelung deformity and normal height. A deletion of the SHOX gene was identified in the male index patient, his father and his sister. Metaphase fluorescence in situ hybridization (FISH) analyses showed a deletion of the SHOX gene on the Y chromosomes of the index patient and his father, and on the X chromosome of his sister, indicating that a meiotic crossover of the SHOX gene region between the X and Y chromosomes had occurred. The pseudoautosomal region 1 is a known recombination ‘hot spot' in male meiosis. Published genetic maps indicate high recombination frequency of ∼40% for SHOX in male meiosis leading to pseudoautosomal inheritance.
Item Description:Gesehen am 02.05.2022
Physical Description:Online Resource
ISSN:1399-0004
DOI:10.1111/j.1399-0004.2010.01488.x

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