Research Article

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Table 1

Primers sequences used to amplify mutation of MCPH1, CENPJ, and CASK.

IDGeneMutationForwardReverseProduct size

MC-1MCPH1c.1254delT; p. Asp419fsACCAGGAGATCTATCATGCCAGAAGTCACGCAACTCGAAG375
MC-2CENPJc.18delC; p. Ser7fsGTAGCTCAATGCCCAATTGCAGAAATGTCCACAGCTGCTC370
MC-3CASKc.1289G>A; p. Arg430HisCCTGCCATAAAAATCCACTCAGTACAGTCCCTGAAAAGCC412