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Table 4 An account of Pakistani families linked to different MCPH loci and a comparison with other populations

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

Locus/Gene No. of Pakistani Families linked * No. of Mutations Reported in Pakistani Families No. of Families linked worldwide*
MCPH1 (Microcephalin) 2 (1.39%) 2 8 Iranian families, 1 Caucasian family
MCPH2 (WDR62) 2 (1.39%) 1 3 Iranian families, 11 Turkish families, 1 Mexican family, 1 Arab family,
MCPH3 (CDK5RAP2) 3 (2.09%) 2 No family reported outside Pakistan
MCPH4 (CEP152) 2 (1.39%) 0 3 Canadian families and 1 Arab Family
MCPH5 (ASPM) 83 (58.04%) 79 13 Iranian Families, 12 Arab families, 8 Indian families, about 22 European families, 5 african families, and many sporadic patients
MCPH6 (CENPJ) 3 (2.09%) 3 5 Iranian Families, 1 Brazilian Family
MCPH7 (STIL) 0 (0%) 0 3 Indian Families, 2 Iranian Families
  48 Pakistani families (33.56%),
Families Not Linked to any locus About 120 families from different World Populations have reported to be unlinked to known MCPH loci including 81 from Iran
Total Families Screened so far 143 Pakistani families and about 200 families with MCPH World wide have been screened so far
  1. *- Number of families has been calculated from published data. Research groups working on genetics of MCPH may have more families in their labs.