Please be on the look out for
Ambry Representatives at :
National Society of Genetic Counselors 2014
NSGC 33rd Annual Education Conference
Ernest N. Morial Convention Center
New Orleans, Louisiana
09/17/14 - 09/20/14
The ribosomal protein L10 gene (RPL10 OMIM 312173) encodes a crucial component of the highly conserved 60S large ribosome subunit, which is required for protein synthesis. The RPL10 gene is located at Xq28 and contains 7 exons. Two missense mutations in the RPL10 gene have been in reported in affected males among two unrelated families with autism spectrum disorder (ASD) (Klauck, SM et al. Mol Psychiatry. 2006;11:1074-1084).