Table 1 All reported autosomal recessive primary microcephaly (MCPH) mutations in ASPM
| Mutation | Predicted protein effect | Reported in more than one family? | Ethnic group | Reference |
| c.74delG | p.Arg25fs | No | Caucasian | This paper |
| c.297+1460_3391-242del21844 | Loss of microtubular binding domain | No | Caucasian | This paper |
| c.349C>T | p.Arg117X | Yes | Caucasian, Indian | 20, 37 |
| c.440delA | p.Lys147fs | No | Caucasian | This paper |
| c.577C>T | p.Gln193X | No | Caucasian | This paper |
| c.719_720delCT | p.Ser240fs | Yes | Pakistani | 3 |
| c.1152_1153delAG | p.Ser384fs | No | Caucasian | This paper |
| c.1179delT | p.Pro393fs | No | Caucasian | This paper |
| c.1258_1264delTCTCAAG | p.Ser420fs | Yes | Pakistani | 3* |
| c.1260_1266delTCAAGTC | p.Ser420fs | Yes | Pakistani | 21* |
| c.1366G>T | p.Glu456X | No | Turkish | This paper |
| c.1406_1413delATCCTAAA | p.Asn469fs | No | Caucasian | This paper |
| c.1590delA | p.Lys530fs | No | Caucasian | This paper |
| c.1727_1728delAG | p.Lys576fs | No | Yemeni | 37 |
| c.1959_1961delCAAA | p.Asn653fs | Yes | Saudi Arabian, Caucasian | This paper, 37 |
| c.1990C>T | p.Gln664X | No | Pakistani | 37 |
| c.2761-25A>G | Creates “AG” motif between branch site and splice acceptor site, exon 10 skipped, exon 11 frameshift with 30 novel aa then stop | No | Caucasian | This paper |
| c.2936+5G>T | Removes splice donor site, additional 2 aa then stop | No | Pakistani | 37 |
| c.2967G>A | p.Trp989X | No | Caucasian | This paper |
| c.3055C>T | p.Arg1019X | Yes | Caucasian | This paper |
| c.3082G>A | Removes splice donor site, additional 3 aa then stop | No | Pakistani | 37 |
| c.3188T>G | p.Leu1063X | No | Pakistani | This paper |
| c.3527C>G | p.Ser1176X | No | Jordanian | 37 |
| c.3663delG | p.Arg1221fs | Yes | Pakistani | 37 |
| c.3710C>G | p.Ser1237X | No | Caucasian | This paper |
| c.3741+1G>A | Removes splice donor site, additional 9 novel aa then stop | No | Caucasian | This paper |
| c.3796G>T | p.Glu1266X | No | African | This paper |
| c.3811C>T | p.Arg1271X | Yes | Dutch†, Asian | This paper, 37 |
| c.3978G>A | p.Trp1326X | Yes | Indian, Pakistani | 20, 21 |
| c.4581delA | p.Gly1527fs | No | Pakistani | 37 |
| c.4795C>T | p.Arg1599X | No | Pakistani | 37 |
| c.4855_4856delTA | p.Tyr1619fs | No | Pakistani | This paper |
| c.5136C>A | p.Tyr1712X | No | Pakistani | 37 |
| c.5149delA | p.Ile1717fs | No | Pakistani | 34 |
| c.6189T>G | p.Tyr2063X | No | Yemeni | 35 |
| c.6335_6336delAT | p.His2112fs | No | Pakistani | This paper |
| c.7489_7493delTATAT | p.Tyr2497fs | No | Caucasian | This paper |
| c.7761T>G | p.Tyr2587X | Yes | Pakistani | This paper, 3 |
| c.7782_7783delGA | p.Gln2594fs | Yes | Caucasian, Pakistani | This paper |
| c.7859_7860delAG | p.Gln2620fs | No | Arab | This paper |
| c.8130_8131delAA | p.Thr2710fs | No | Caucasian | This paper |
| c.8378delT | p.Met2793fs | Yes | Pakistani | This paper |
| c.8508_8509delGA | p.Gln2836fs | Yes | Pakistani | This paper, 34, 37 |
| c.8844delC | p.Ala2948fs | No | Caucasian | This paper |
| c.9118_9119insCATT | p.Tyr3040fs | No | Pakistani | 21 |
| c.9159delA | p.Lys3053fs | Yes | Pakistani | 3, 37 |
| c.9178C>T | p.Gln3060X | Yes | Indian, Caucasian | This paper, 20 |
| c.9190C>T | p.Arg3064X | Yes | Pakistani, Dutch | This paper, 37 |
| c.9238A>T | p.Leu3080X | Yes | Pakistani | This paper, 21 |
| c.9557C>G | p.Ser3186X | Yes | Pakistani | 21, 37 |
| c.9681delA | p.Thr3227fs | No | Pakistani | This paper |
| c.9730C>T | p.Arg3244X | No | Pakistani | 34 |
| c.9745_9746delCT | p.Leu3249fs | No | Pakistani | This paper |
| c.9754delA | p.Arg3252fs | No | Yemeni | 37 |
| c.9789T>A | p.Tyr3263X | No | Pakistani | This paper |
| c.9984+1G>T | Removes splice donor site, additional 29 novel aa then stop | No | Pakistani | 37 |
| c.10059C>A | p.Tyr3353X | No | Pakistani | 34 |
| Translocation | Loss of IQ and armadillo domains | No | European | 33 |
-
aa, amino acids.
-
*These are the same 7 base pair deletion mutation. †c.3811C>T has been found in a total of 3 out of 5 Dutch families with MCPH.
-
Bold face indicates MCPH associated with epileptic fits.
-
The position of each mutation is given as the number of bases from the start codon of the reference sequence NM_018136.3.
