Reference : Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients wit...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/21312
Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.
English
Mutesa, L. [> > > >]
Vanbellinghen, Jean-François mailto [Centre Hospitalier Universitaire de Liège - CHU > > Centre de diagnostic moleculaire >]
Hellin, Anne-Cécile mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Segers, Karin mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Jamar, Michelle [Centre Hospitalier Universitaire de Liège - CHU > > HOPITAL DE JOUR ONCOLOGIQUE +3D >]
Pierquin, Geneviève mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Bours, Vincent mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > GIGA-R : Génétique générale et humaine >]
2009
Genetic Counseling (Geneva, Switzerland)
Edition Médecine et Hygiène
20
1
9-17
Yes (verified by ORBi)
International
1015-8146
Geneva
Switzerland
[en] Adolescent ; Adult ; Consanguinity ; Dwarfism/genetics ; Epilepsy/genetics ; Family Health ; Female ; Homeodomain Proteins/genetics ; Humans ; Male ; Mental Retardation/genetics ; Osteochondrodysplasias/genetics ; Pedigree ; Sequence Deletion ; Syndrome
[en] Heterozygote deletions or mutations of pseudoautosomal 1 region (PAR1) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists. SHOX is expressed by both sex chromosomes in males and females and plays an important role in bone growth and development. Clinically, the LWD expression is variable and more severe in females than males due to sex differences in oestrogen levels. Here, we report two familial cases of LWD with a large Xp terminal deletion (approximately 943 kb) of distal PAR1 encompassing the SHOX gene. In addition, the proband had mental retardation which appeared to be from recessive inheritance in the family.
http://hdl.handle.net/2268/21312

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