Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients

Abstrakt

Defects of the SHOX gene (short stature homeobox-containing gene) or its regulatory sequences have been obviously associated with Léri-Weill dyschondrosteosis, Langer syndrome, and idiopathic short stature. We have analysed an association of a small common ~4,9kb deletion (L05101), ~200kb downstream of SHOX gene nearby its known regulatory sequences.

We confirmed that this small PAR1 deletion represents a non-pathogenic polymorphism.

Klíčová slova

• SHOX
• deletion
• PAR1
• idiopathic short stature
• polymorphism