Table 1.
List of MCPH mutations identified in this study
| Gene | Exon | Ref. Seq. ID | cDNA mutation | Protein mutation | gnomAD Frequency c | Family ID | Reference |
|---|---|---|---|---|---|---|---|
| ASPM | 3 | NM_018136.4 | c.727C>T | p.(Arg243*) | 3.98e−6/1,245848,0 | Family 20 | Novel |
| 3 | NM_018136.4 | c.1260_1266delTCAAGTC | p.(Gln421Hisfs*32) | 4e−6/1,245792,0 | Family 7,13 | Gul et al. (2006) | |
| 3 | NM_018136.4 | c.1602_1605delTCAA | p.(Asn534Lysfs*14) | 0 | Family 14 | Novel | |
| 3 | NM_018136.4 | c.1615_1616delGA | p.(Glu539Argfs*15) | 0 | Family 25 | Novel | |
| 13 | NM_018136.4 | c.3193C>T | p.(Gln1065*) | 0 | Family 27 | Novel | |
| 18 | NM_018136.4 | c.4212G>A | p.(Trp1404*) | 0 | Family 18 | Ahmad et al. (2017) | |
| 18 | NM_018136.4 | c.5149delA | p.(Ile1717*) | 0 | Family 12,19 | Gul et al. (2007) | |
| 18 | NM_018136.4 | c.5959C>T | p.(Gln1987*) | 0 | Family 30 | Ahmad et al. (2017) | |
| 18 | NM_018136.4 | c.7782_7783delGA | p.(Lys2595Serfs*6) | 2.23e−4/62,278516,0 | Family 31 | Passemard et al. (2016) | |
| 18 | NM_018136.4 | c.8190_8193delAGAA | p.(Arg2732Lysfs*4) | 8.09e−6/2,242788,0 | Family 6 | Passemard et al. (2009) | |
| 18 | NM_018136.4 | c.8508_8509delGA | p.(Lys2837Metfs*34) | 8.02e−6/2,244284,0 | Family 1,5 | Bond et al. (2003) | |
| 18 | NM_018136.4 | c.8718_8721delTTTA | p.(Leu2907Argfs*30) | 0 | Family 26 | Novel | |
| 21 | NM_018136.4 | c.9190C>T | p.(Arg3064*) | 2.8e−5/7,244828,0 | Family 15 | Nicholas et al. (2009) | |
| 21 | NM_018136.4 | c.9286C>T | p.(Arg3096*) | 4.089e−6/1,249754,0 | Family 28 | Darvish et al. (2010) | |
| 23 | NM_018136.4 | c.9557C>G | p.(Ser3186*) | 3.99e−6/1,245312,0 | Family 17 | Gul et al. (2006) | |
| 23 | NM_018136.4 | c.9601C>T | p.(Gln3201*) | 0 | Family 22 | Novel | |
| 24 | NM_018136.4 | c.9789 T > A | p.(Tyr3263*) | 0 | Family 2 | Nicholas et al. (2009) | |
| 25 | NM_018136.4 | c.9961C>T | p.(Gln3321*) | 3.99e−6/1,245316,0 | Family 16 | Novel | |
| 18 | NM_018136.4 | c.6854_6855delTC | p.(Leu2285Glnfs*32) | 2.13e−5/6,281042,0 | Family 32 | Novel | |
| 25 | c.9976_9977dupGT | p.(Ser3327 Tyrfs*14) | NA | Novel | |||
| 15 | c.3741G>A | p.(Lys1247=) | NA | Novel | |||
| WDR62 | 9 | NM_001083961.1 | c.1194G>A | p.(Trp398*) | 1.22e−5/3,245910,0 | Family 21 | Sajid Hussain et al. (2013) |
| 18 | NM_001083961.1 | c.2195C>T | p.(Thr732Ile) | 0 | Family 4 | Novel | |
| 28 | NM_001083961.1 | c.3361delG | p.(Ala1121Glnfs*6) | 0 | Family 10 | Sajid Hussain et al. (2013) | |
| 30 | NM_001083961.1 | c.3936dupC a | p.(Val1313Argfs*18) | 0 | Family 8 | Yu et al. (2010) | |
| 31 | NM_001083961.1 | c.4241dupT b | p.(Ser1415Glufs*40) | 0 | Family 9 | Nicholas et al. (2010) | |
| CDK5RAP2 | 6 | NM_018249.5 | c.448C>T | p.(Arg150*) | 1.59e−5/4,246038,0 | Family 3 | Novel |
| CENPJ | 2 | NM_018451.4 | c.18delC | p.(Ser7Profs*2) | 0 | Family 11 | Bond et al. (2005) |
| STIL | 17 | NM_001048166.1 | c.3694C>T | p.(Arg1232*) | 1.99e−5/5,246162,0 | Family 24 | Novel |
| 17 | NM_001048166.1 | c.3759dupT | p.(Pro1254Serfs*2) | 0 | Family 29 | Novel | |
| CEP135 | 23 | NM_025009.4 | c.3157G>T | p.(Glu1053*) | 3.99e−6/1,245562,0 | Family 23 | Novel |
a
This mutation was previously reported as c.3936_3937insC.
b
c.4241_4242insT, both of them were corrected according to the HGVS (Human Genome Variation Society) guidelines.
c
Allele frequency observed in gnomAD/allele count, total allele number, number of homozygotes.