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Table 5 ASPM gene mutations in MCPH families from Pakistan

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

Mutation Language Group State of Mutation Present in No. of families from Pakistan Reference
349C-T Northern Pakistani homozygous One [22]
719delCT Northern Pakistani homozygous One [74]
1258delTCTCAAT Northern Pakistani homozygous Two [22, 74]
9190C-T Northern Pakistani homozygous One [22]
2936+5G-T (intronic) Northern Pakistani homozygous One [74]
1990C-T Northern Pakistani homozygous One [74]
8508delGA Sindi, Northern Pakistani homozygous Four [16, 17, 19, 74]
3082G-A Northern Pakistani homozygous One [74]
4581delA Northern Pakistani homozygous One [74]
4795C-T Northern Pakistani homozygous One [74]
7895C-T Northern Pakistani homozygous One [74]
9159delA Northern Pakistani homozygous Three [22, 74, 105]
9557C-G Hindko homozygous Three [11, 74]
9984+1G-T (intronic) Northern Pakistani homozygous One [74]
3663delG Northern Pakistani homozygous Two [74]
1002delA Pakistani homozygous One [16]
2938C-T Pakistani homozygous One [16]
3055C-T Pakistani homozygous One [16]
7894C-T Pakistani/heterozygous Homozygous Two [16]
3477delCGCTA Pakistani Homozygous One [16]
6732delA Pakistani Homozygous One [16]
8668C-T Pakistani Homozygous One [16]
3978G-A Pashto.... Heterozygous/homozygous Eighteen [11, 16, 17, 105]
9319C-T Pakistani heterozygous One [16]
9492T-G Pakistani homozygous Three [16, 105]
9595A-T Pakistani homozygous One [16]
9677insG Pakistani homozygous One [16]
9697C-T Pakistani homozygous One [16]
1260delTCAAGTC Saraiki homozygous Two [11, 105]
3188T-G Pakistani homozygous One [19]
4855delTA Pakistani homozygous One [19]
5136C-A Sindhi homozygous One [17]
5149delA Saraiki homozygous One [17]
6335delAT Pakistani homozygous One [24]
7761T-G Pakistani homozygous Two [19, 22]
7782delGA Pakistani homozygous One [19]
8378delT Pakistani homozygous More than one [19]
9118insCATT Punjabi homozygous One [11]
9238A-T Punjabi homozygous Two [11, 19]
9681delA Pakistani homozygous One [19]
9730C-T Kashmiri homozygous One [17]
9745delCT Pakistani homozygous One [19]
9789T-A Pakistani homozygous One [19]
10059C-A Saraiki homozygous One [17]
9539A-C Sindi homozygous One [11]
2101C-T Pakistani homozygous One [105]
6686delGAAA Pakistani homozygous Two [8, 105]
77delG Pakistani homozygous Two [8, 105]