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Table 2 Number of reported mutations in MCPH genes in families of different ethnic backgrounds worldwide.

From: Molecular genetics of human primary microcephaly: an overview

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, 8991]
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]
  1. 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.