FaCD Online Syndrome Fact Sheet

Last updated: 21 Nov 2011

Name: Leri-Weill Dyschondrosteosis and Hodgkin disease

Mode of Inheritance: pseudoautosomal/cgd

Genes

SHOX, mapped to Xp22.33

Tumor features (possible)

Hodgkin disease (Hodgkin's lymphoma)

Non-tumor features

short stature
skeletal dysplasia

Comment

Gokhale et al[1] reported a family with multigenerational skeletal dysplasia type Leri-Weill (LWD) in the maternal branch of a family and two sisters with both Hodgkin disease (HD) as well as LWD. Some maternal relatives had HD but no LWD. LWD is caused by mutations in the SHOX gene mapped to the pseudoautosomal region. Together with the observation from population studies of an excess of sex-concordant affected HD sib pairs, this led Horwiz and Wiernik[2,3] to speculate that a gene located near SHOX predisposes to HD. In the family reported by Gokhale et al, Shears et al[4] detected a small maternaly inherited deletion within the pseudoautosomal region of the X chromosome. leri-Weill is caused by deletions of SHOX[5].

References

[1] Gokhale DA, Evans DG, Crowther D, Woll P, Watson CJ, Dearden SP, Fergusson WD, Stevens RF, Taylor GM. Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. Leukemia 1995; 9(5):826-33.
[2] Shears DJ, Endris V, Gokhale DA, Dearden SP, Radford JA, Rappold GA, Taylor GM. Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. British journal of haematology 2003; 121(2):377-9.
[3] Horwitz M, Wiernik PH. Pseudoautosomal linkage of Hodgkin disease. American journal of human genetics 1999; 65(5):1413-22.
[4] Horwitz M S et al. Further evidence for a pseudoautosomal gene for Hodgkin's lymphoma: Reply to 'The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish Family-Cancer Database' by Altieri A and Hemminki K. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2007; 21:351.
[5] Binder Gerhard et al. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Hormone research in pædiatrics 2011; 75:81-9.