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