Table 2.
Number of reported mutations in MCPH genes in families of different ethnic backgrounds worldwide.
| MCPH genes | Reported mutations | Types of mutations | Ethnicity (families) | References | |||
|---|---|---|---|---|---|---|---|
| Missense/nonsense | Splicing | Deletions & insertions | Complex rearrangements | ||||
| MCPH1 | 24 | 8 | 1 | 14 | 1 | Iranian (8), Caucasian (1), Pakistani (13) | [5,22,51,86,89-91] |
| WDR62 | 28 | 14 | 1 | 13 | 0 | Iranian (3), Turkish (11), Mexican (1), Arab (1), Pakistan (9) | [7,13,30,86,91] |
| CDKRAP2 | 6 | 3 | 2 | 1 | 0 | Pakistani (2), Somalian (1) | [7,32,34,36,92] |
| CASC5 | 1 | 1 | 0 | 0 | 0 | Moroccan (3) | [43] |
| ASPM | 104 | 48 | 7 | 48 | 1 | Iranian (13), Arab (12), Indian (8), European (22), African (5), Pakistani (60), many sporadic cases. | [7,14,50,51,86,91,93] |
| CENPJ | 5 | 2 | 1 | 2 | 0 | Iranian (5), Pakistani (6) | [32,60,61,86,91] |
| STIL | 4 | 2 | 1 | 1 | 0 | Iranian (2), Indian (3) | [68,86,87] |
| CEP135 | 1 | 0 | 0 | 1 | 0 | Pakistani (1) | [20] |
| CEP152 | 9 | 5 | 2 | 2 | 0 | Pakistani (5), Canadian (3) | [77,91,94] |
| ZNF335 | 2 | 1 | 1 | 0 | 0 | Arab Israeli (1) | [78] |
| PHC1 | 1 | 1 | 0 | 0 | 0 | Saudi Arabian (1) | [80] |
| CDK6 | 1 | 1 | 0 | 0 | 0 | Pakistani (1) | [83] |
Abbreviations. MCPH: Autosomal recessive primary microcephaly; MCPH1: Microcephalin; WDR62: WD repeat-containing protein 62; CDK5RAP2: Cyclin dependent kinase-5 regulatory subunit associated protein; CASC5: Cancer susceptibility candidate-5; ASPM: Abnormal spindle like primary microcephaly; CENPJ: Centromere-associated protein J; STIL:SCL/TAL1 interrupting locus; CEP135:Centrosomal protein 135; CEP152: Centrosomal protein 152; ZNF335: Zinc Finger Protein 335; PHC1: Polyhomeotic-like protein 1; CDK6: Cyclin-dependent kinase 6.