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Table 6 MCPH1, WDR62, CDK5RAP2, and CENPJ mutations in MCPH families from Pakistan

From: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Gene Symbol Mutation Language
State of
Present in No. of families from Pakistan Reference
MCPH1 74C-G Northern Pakistani Homozygous Two [25]
WDR62 3232G-A Sindhi Homozygous One [27]
  246T-A Kashmiri Homozygous Two [43, 44]
CDK5RAP2 IVS26-15A-G Northern Pakistani Homozygous One [44]
  17delC Northern Pakistani Homozygous Two [44]
CENPJ 3243delTCAG Pushto Homozygous One [88]