Table 2.
Reported mutations of MCPH1–MCPH18 genes.
| MCPH1–Microcephalin | |||
|---|---|---|---|
| 74C-G transversion | Ser25-to-ter (S25X) substitution | Exon2 | Jackson et al. (2002) |
| 1-bp insertion (427insA) | Truncated protein of 146 a.a | Exon5 | Trimborn et al. (2004) |
| 150- to 200-kb deletion | – | Exon1–6 | Garshasbi et al. (2006) |
| 1-bp insertion (566insA) | Frameshift mutation | Exon6 | Darvish et al. (2010) |
| 147C-G transversion | His49-to-gln (H49Q) substitution | Exon3 | Darvish et al. (2010) |
| 215C-T transition | Ser72-to-leu (S72L) substitution | Exon3 | Darvish et al. (2010) |
| 302C-G transversion | Ser101-to-ter (S101X) substitution | Exon4 | Farooq et al. (2010) |
| MCPH2–WDR62 | |||
| 4-bp deletion (c.4205delTGCC) | Val1402GlyfsTer12 | Exon31 | Bilguvar et al. (2010) |
| c.1576G-A substitution | Glu52-to-Lys (E526 K) substitution | Exon12 | Bilguvar et al. (2010) |
| G-to-C transversion | Try224-to-Ser (W224S) substitution | Exon6 | Bilguvar et al. (2010) |
| C-to-T transition | Glu to termination substitution (Q470X) | Exon11 | Bilguvar et al. (2010) |
| 17-bp deletion | Gly1280AlafsTer21 | Exon30 | Bilguvar et al. (2010) |
| 1313G-A transition | Arg438-to-His (R438H) substitution | Exon10 | Nicholas et al. (2010) |
| 1-bp duplication (4241dupT) | Premature termination | Exon31 | Nicholas et al. (2010) |
| 1531G-A transition | Asp511-to-Asn (D511N) substitution | Exon11 | Nicholas et al. (2010) |
| 1-bp insertion (3936insC) | Premature termination | Exon30 | Yu et al. (2010) |
| 1-bp deletion (363delT) | Premature termination | Exon4 | Yu et al. (2010) |
| 193G-A transition | Val65-to-Met (V65M) substitution | Exon2 | Yu et al. (2010) |
| 1-bp deletion (2083delA) | – | Exon17 | Murdock et al. (2011) |
| 2-bp deletion (2472_2473delAG) | – | Exon23 | Murdock et al. (2011) |
| MCPH3–CDK5RAP2 | |||
| c.243 T-A transversion | Ser81-to-Ter (S81X) substitution | Exon4 | Bond et al. (2005) |
| c.246 T-A transversion | Tyr82-to-Ter (Y82X) substitution | – | Hassan et al. (2007) |
| c.15A-G transition | – | Intron26 | Bond et al. (2005) |
| c.700G-T transversion | Glu234-to-Ter (E234X) substitution | Exon8 | Pagnamenta et al. (2012) |
| c.4546G-T transversion | Glu1516-to-Ter (E1516X) substitution | – | Lancaster et al. (2013) |
| c.4672C-T transition | Arg1558-to-Ter (R1558X) substitution | – | Lancaster et al. (2013) |
| 5-bp deletion (c.524_528del) | Gln175ArgfsTer42 | Exon7 | Tan et al. (2014) |
| MCPH4–CASC5 | |||
| 6125G-A transition | Met2041-to-Ile (M2041I) substitution | Exon18 | Genin et al. (2012) |
| MCPH5–ASPM | |||
| 2-bp deletion (719-720delCT) | Premature termination 15 codons downstream | Exon3 | Bond et al. (2002) |
| 7-bp deletion (1258-1264delTCTCAAG) | Premature termination 31 codons downstream | Exon3 | Bond et al. (2002) |
| 7761 T-G transversion | Immediate truncation | Exon18 | Bond et al. (2002) |
| 1-bp deletion (9159delA) | Premature termination four codons downstream | Exon21 | Bond et al. (2002) |
| 9178C-T transition | Gln3060-to-Ter (Q3060X) substitution | Exon21 | Kumar et al. (2004) |
| 3978G-A transition | Trp1326-to-Ter (W1326X) substitution | Exon17 | Kumar et al. (2004) |
| 349C-T transition | Arg117-to-Ter (R117X) substitution | – | Kumar et al. (2004) |
| 6189 T-G transversion | Tyr2063-to-Ter (Y2063X) substitution | Exon18 | Shen et al. (2005) |
| 1-bp insertion (4195insA) | Premature termination | Exon6 | Saadi et al. (2009) |
| 2389C-T transition | Arg797-to-Ter (R797X) substitution | Exon18 | Saadi et al. (2009) |
| 2-bp deletion | 7781delAG | – | Saadi et al. (2009) |
| MCPH6–CENPJ | |||
| 1-bp deletion (17delC) | Thr6fsTer3 | – | Leal et al. (2003); Bond et al. (2005) |
| 1-bp deletion (c.18delC) | Ser7ProfsTer2 | Exon 2 | Sajid Hussain et al. (2013) |
| 3704A-T transversion | Glu1235-to-Val (E1235 V) substitution | Exon16 | Bond et al. (2005) |
| 4-bp deletion (3243delTCAG) | – | Exon11 | Gul et al. (2006 b) |
| IVS11-1G-C | – | Intron11 | Al-Dosari et al. (2010) |
| 2462C-T transition | Thr821-to-Met (T821M) substitution | Exon7 | Darvish et al. (2010) |
| MCPH7–STIL | |||
| 3715C-T transition | Gln1239-to-Ter (Q1239X) substitution | Exon18 | Kumar et al. (2009) |
| 1-bp deletion (3655delG) | – | Exon18 | Kumar et al. (2009) |
| G-to-A transition | – | Intron16 | Kumar et al. (2009) |
| c.2392 T-G transversion | Leu798-to-Trp (L798W) substitution | Exon14 | Papari et al. (2013) |
| c.453 + 5G-A transition | Asp89GlyfsTer8 | Intron5 | Kakar et al. (2015) |
| MCPH8–CEP135 | |||
| 1-bp deletion (970delC) | Gln324SerfsTer2 | Exon8 | Hussain et al. (2012) |
| c.1473 + 1G-A transition | Glu417GlyfsTer2 | Intron11 | Farooq et al. (2016) |
| MCPH9–CEP152 | |||
| A-to-C transversion | Gln265-to-Pro (Q265P) substitution | – | Guernsey et al. (2010) |
| C-to-T transition | Arg987-to-Ter (R987X) substitution | – | Guernsey et al. (2010) |
| MCPH10–ZNF335 | |||
| 3332G-A transition | Arg1111-to-His (R1111H) substitution | Exon20 | Yang et al. (2012) |
| MCPH11–PHC1 | |||
| c.2974C-T transition | Leu992-to-Phe (L992 F) substitution | Awad et al. (2013) | |
| MCPH12–CDK6 | |||
| c.589G-A transition | Ala197-to-Thr (A197 T) substitution | Exon5 | Hussain et al. (2013) |
| MCPH13–CENPE | |||
| c.2797G-A transition | Asp933-to-Asn (D933N) substitution | – | Mirzaa et al. (2014) |
| c.4063A-G transition | Lys1355-to-Glu (K1355E) substitution | Mirzaa et al. (2014) | |
| MCPH14–SASS6 | |||
| c.185 T-C transition | Ile62-to-Thr (I62 T) substitution | Exon3 | Khan et al. (2014) |
| MCPH15–MFSD2A | |||
| c.476C-T transition | Thr159-to-Met (T159M) substitution | – | Guemez-Gamboa et al. (2015) |
| c.497C-T transition | Ser166-to-Leu (S166L) substitution | Exon 10 | Guemez-Gamboa et al. (2015) |
| c.1016C-T transition | Ser339-to-Leu (S339L) substitution | – | Alakbarzade et al. (2015) |
| MCPH16–ANKLE2 | |||
| c.2344C-T transition | Gln782-to-Ter (Q782X) substitution | Exon11 | Yamamoto et al. (2014) |
| c.1717C-G transversion | Leu573-to-Val (L573 V) substitution | Exon10 | |
| MCPH17–CIT | |||
| c.317G-T transversion | Gly106-to-Val (G106 V) substitution | Exon4 | Li et al. (2016) |
| c.376A-C transversion | Lys126-to-Gln (K126Q) substitution | – | Li et al. (2016) |
| c.689A-T transversion | Asp230-to-Val (D230 V) substitution | – | Li et al. (2016) |
| c.1111 + 1G-A transition | Gly353_371delinsAla | Intron9 | Shaheen et al. (2016) |
| c.29_38delATCCTTTGGA | Asn10MetfsTer15 | Exon2 | Harding et al. (2016) |
| c.753 + 3A-T | Asp221Ter | Intron7 | Basit et al. (2016) |
| MCPH18–WDFY3 | |||
| c.7909C-T transition | Arg2637-to-trp (R2637W) substitution | – | Kadir et al. (2016) |