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Table 1 MCPH2 phenotypes and genotypes

From: Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

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]

  1. # Patients belong to one family.
  2. * OFC in SDS, age in years (y) or months (m).
  3. § Behavioral abnormalities reported were hyperactivity and aggression.
  4. a Mild, b Moderate, c Severe.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172