A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX.

摘要

In the recent paper by Reish et al. [2010] a female with short stature, diagnosed with Leri-Weill dyschondrosteosis (LWD), was reported to be mosaic for monosomy X in 31% of her lymphocytes. To explain her clinical features, the authors postulated a second molecular defect. Pseudoautosomal region 1 (PAR1) microsatellite marker and SNP analysis showed a deletion of less than 10 kb, 197 kb downstream of SHOX, transmitted from her clinically unaffected father. Since most patients with Langer mesomelic dysplasia (LMD) that present with deletions downstream of SHOX also have a SHOX mutation in trans, they speculated that this small PAR1 deletion may be associated with a milder LWD phenotype. However, they failed to mention whether SHOXpoint mutations or insertion/deletions were excluded and whether the suspected initial diagnosis of hypochondroplasia was investigated at the molecular level.