Patent ID: 7776551
Filing Date: 2010-08-17
Classification: C12Q

Abstract:
1. A method of diagnosing non-syndromic mental retardation (NSMR) associated with psychomotor developmental delay in an individual, the method comprising analyzing a sequence of a coiled-coil and C2 domain containing 1A (CC2D1A) as set forth by SEQ ID NO:1 or SEQ ID NO:110 of the individual for a presence of a disease causing mutation in said sequence, wherein said disease-causing mutation is the deletion of the genomic nucleic acid sequence as set forth by SEQ ID NO:109, wherein said presence of said disease-causing mutation in said sequence is indicative of the non-syndromic mental retardation associated with psychomotor developmental delay, thereby diagnosing the non-syndromic mental retardation associated with psychomotor developmental delay in the individual.