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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, 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]

  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.
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BMC Medical Genomics

ISSN: 1755-8794

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