Identification of a Recognizable Progressive Skeletal Dysplasia Caused by Mutations

We describe a clinically recognizable autosomal-recessive disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. Combined autozygome/exome analysis identified a homozygous frameshift mutation in RSPRY1 with resulting nonsense-mediated decay.

Source: The American Journal of Human Genetics - September 10, 2015 Category: Genetics & Stem Cells Authors: Maha Faden, Fatema AlZahrani, Roberto Mendoza-Londono, Lucie Dupuis, Taila Hartley, Peter Kannu, Julian A. Raiman, Andrew Howard, Wen Qin, Martine Tetreault, Joan Qiongchao Xi, Imadeddin Al-Thamer, Care4Rare Canada Consortium, Richard L. Maas, Kym Boyc Tags: Report Source Type: research