Skip to main content
. 2013 Nov 14;8:178. doi: 10.1186/1750-1172-8-178

Table 1.

MCPH2 phenotypes and genotypes

Exon/Intron Mutation Alteration Ethnicity No. of patients Mc* at birth Mc* at follow up Neurological phenotype
 Neuroradiological phenotype
 Further phenotypes Reference
Intellectual disability Speech delay Motor delay Epilepsy Spasticity Behavioral abnormalities § Simplified gyration Cortical thickening Corpus callosum abnormalities Pachygyria Polymicrogyria Schizencephaly Heterotopia
Ex2
 c.193G>A
 p.V65M
 Arab
 7
 yes
 -5.3 to -9.8 SD
 + a,b
 +
 +
 -
 +
 -
 +
 -
 +
 -
 +
 +
 -
 disproportionate sized face and ears compared to the skull
 [4,12]
Ex3
 c.332G>C
 p.R111T
 Pakistani
 6#
  
 -7 to -11 SD
  
 +
 -
 +
 -
 -
  
  
  
  
  
  
  
  
 [11]
Ex4
 c.363delT
 p.D112fs
 Mexican
 3#
 -5 SD
 10 m: -5.4 SD
  
 +
 +
 +
 -
 -
 +
 -
 +
 -
 -
 -
 -
  
 [12]
Ex5
 c.535_536insA
 p.M179fs
 Indian
 2#
  
 -4 to -9 SD
 + a,c
 +
 +
 +
 -
 -
 -
 +
 -
 +
 -
 -
 -
 low set and prominent ears
 [6]
Ex6
 c.671G>C
 p.W224S
  
 3#
  
 2y: -3.5 SD
 + c
 -
 +
 +
 -
 +
 -
 +
 +
 +
 -
 -
 -
 micrognathia
 [7]
Ex8
 c.900C>A
 p.C300*
 Indian
 2#
  
 -8 to -9 SD
 + a
 +
 +
 +
 -
 -
 -
 -
 -
 +
 +
 -
 +
  
 [6]
In8
 c.1043 + 1G>A
 p.S348fs
 Turkish
 1
 -2.6 SD
 2 m: -4.0SD
  
 -
 -
 -
 -
 -
 -
 -
 +
 -
 -
 -
 +
  
 [12]
5 m: -5.3SD
Ex9
 c.1143delA
 p.H381fs
 Pakistani
 2#
  
 -6 to -7 SD
  
 +
 +
 +
 -
 -
 -
 -
 +
 -
 -
 +
 -
  
 [9]
Ex9
 c.1194G>A
 p.W398*
 Pakistani
 4#
  
 -6 to -8 SD
  
  
  
  
  
  
  
  
  
  
  
  
  
  
 [11]
Ex9
 c.1198G>A
 p.E400K
 Hispanic
 2#
  
 9 m: -4 SD
  
 +
 +
 +
 -
 +
 -
 -
 -
 +
 -
 -
 -
  
 [5]
Ex10
 c.1313G>A
 p.R438H
 Pakistani
 6
 yes
 -5 to -14 SD
 + a,b
 +
 -
 -
 -
 -
 +
 -
 -
 -
 -
 -
 -
 disproportionate sized face and ears compared to the skull
 [4,8]
Ex10/23
 c.1313G>A / c.2864-2867delACAG
 p.R438H / p.D955fs
 German
 1
 - 2.3 SD
  
 + a
 +
 +
 +
 -
 -
 +
 -
 +
 -
 -
 -
 -
 bilateral pes planus and hallux valgus
 this study
Ex11
 c.1408C>T
 p.Q470*
  
 1
 yes
  
 + c
 -
 -
 +
 -
 -
 -
 +
 +
 +
 -
 -
 -
 genu varum, cryptorchidism, arachnodactly
 [7]
Ex11
 c.1531G>A
 p.D511N
 Pakistani
 5
 yes
  
 + a,b
 +
 -
 -
 -
 -
  
  
  
  
  
  
  
 disproportionate sized face and ears compared to the skull
 [4,8]
Ex12
 c.1576G>T
 p.E526*
  
 1
  
 9 m: -4 SD
 + b
 -
 +
 +
 -
 -
 -
 +
 +
 +
 -
 -
 -
  
 [7]
Ex12
 c.1576G>A
 p.E526K
  
 1
  
 3.5 y: -4 SD
 + c
 +
 -
 -
 -
 -
 -
 +
 +
 +
 -
 -
 -
 prognathism
 [7]
Ex15
 c.1942C>T
 p.Q648*
 Pakistani
 2#
 yes
  
 +
 -
 -
 -
 -
 -
 +
 -
 -
 -
 -
 -
 -
  
 [8]
Ex17/23
 c.2083delA/c.2472_2473delAG
 p.S696fs / p.Q918fs
  
 2#
 yes
 8 y: -5 SD
 +
 +
 +
 +
 +
 -
 -
 -
 -
 -
 +
 -
 -
  
 [10]
In23
 c.2867 + 4_c2867 + 7delGGTG
 p.S956fs
 Turkish
 1
  
 1 y: -8.5SD
  
 -
 +
 -
 -
 -
 -
 -
 +
 -
 -
  
 +
  
 [12]
Ex27
 c.3232G>A
 p.A1078T
 Pakistani
 5
 yes
  
 + a,b
 +
 -
 -
 -
 -
  
  
  
  
  
  
  
 disproportionate sized face and ears compared to the skull
 [4]
Ex28
 c.3361delG
 p.A1121fs
 Pakistani
 2#
  
 -10 to -11 SD
  
  
  
  
  
  
  
  
  
  
  
  
  
  
 [11]
Ex29
 c.3503G>A
 p.W1168*
 Pakistani
 3#
  
 -9 to -11 SD
  
 -
 -
 +
 -
 +
  
  
  
  
  
  
  
  
 [11]
Ex30
 c.3839_3855del
 p.G1280fs
 Turkish
 1
  
 3 m: - 3.5SD
  
 +
 +
 +
 -
 -
 -
 -
 +
 -
 -
 -
 -
  
 [12]
Ex30
 c.3936dupC
 p.V1314fs
 Caucasian
 5
 -2.8 SD
 -4 to -5 SD
  
 +
 +
 -
 -
 -
 +
 +
 +
 -
 +
 -
 -
 broad nasal bridge, widely set eyes
 [4,8,12]
Turkish
Pakistani
Ex31
 c.4205_4208delTGCC
 p.V1402fs
 Turkish
 2#
  
 -5 to - 6 SD
 + c
 +
 +
 -
 -
 -
 -
 +
 +
 +
 -
 -
 -
 micrognathia, bulbous nose
 [7]
Ex31 c.4241dupT p.L1414fs Pakistani 9 yes   + a,b +   - - -               disproportionate sized face and ears compared to the skull [4]

# Patients belong to one family.

* OFC in SDS, age in years (y) or months (m).

§ Behavioral abnormalities reported were hyperactivity and aggression.

a Mild, b Moderate, c Severe.