Pseudoautosomal inheritance of Léri-Weill syndrome

• Verfasst von: Evers, Christina [VerfasserIn]
• Verfasst von: Heidemann, Ph [VerfasserIn]
• Verfasst von: Dunstheimer, D [VerfasserIn]
• Verfasst von: Schulze, E [VerfasserIn]
• Verfasst von: Haag, C [VerfasserIn]
• Verfasst von: Janssen, Johannes W. G. [VerfasserIn]
• Verfasst von: Fischer, C [VerfasserIn]
• Verfasst von: Jauch, Anna [VerfasserIn]
• Verfasst von: Moog, Ute [VerfasserIn]
• Titel: Pseudoautosomal inheritance of Léri-Weill syndrome
• Titelzusatz: what does it mean?
• Verf.angabe: C. Evers, P.H. Heidemann, D. Dunstheimer, E. Schulze, C. Haag, J.W.G. Janssen, C. Fischer, A. Jauch and U. Moog
• E-Jahr: 2011
• Jahr: 07 April 2011
• Umfang: 6 S.
• Fussnoten: Gesehen am 02.05.2022
• Titel Quelle: Enthalten in: Clinical genetics
• Ort Quelle: Oxford : Wiley-Blackwell, 1970
• Jahr Quelle: 2011
• Band/Heft Quelle: 79(2011), 5, Seite 489-494
• ISSN Quelle: 1399-0004
• DOI: doi:10.1111/j.1399-0004.2010.01488.x
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: LWD
• Sach-SW: LWS
• Sach-SW: pseudoautosomal inheritance
• Sach-SW: SHOX gene
• K10plus-PPN: 1800629265

Abstract

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.