title: Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
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.
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Evers
authors.forename: P H
authors.initials: PH
authors.lastname: Heidemann
authors.forename: D
authors.initials: D
authors.lastname: Dunstheimer
authors.forename: E
authors.initials: E
authors.lastname: Schulze
authors.forename: C
authors.initials: C
authors.lastname: Haag
authors.forename: J W G
authors.initials: JW
authors.lastname: Janssen
authors.forename: C
authors.initials: C
authors.lastname: Fischer
authors.forename: A
authors.initials: A
authors.lastname: Jauch
authors.forename: U
authors.initials: U
authors.lastname: Moog
mesh_terms: D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics; D010375:Pedigree; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein