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Table 2 A summary of reported patients with mutations in the MPLKIP gene and clinical features

From: A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom

Country

Variation

Type

PS

HA

FD

MR

HG

O/O

CT

SS

Particularity

Ref.

Pakistan

c.339 +1G > A

Splice

N

Y

Y

Y

NA

NA

Y

Y

Mitral regurgitation

[7]

Caucasian

c.2T>C (initiation codon)

 

N

Y

Y

Y

NA

Y

N

N

Autism spectrum disorder

[9]

Caucasian

Deletion of 120kb; c.227delG

Deletion

N

Y

Y

Y

NA

Y

Y

Y

Aortic arch with aberrant left subclavian artery

[9]

Caucasian

c.277delT; Deletion of 92 kb

Deletion

N

Y

Y

NA

NA

NA

NA

Y

Atrial septal defect; pulmonic stenosis

[9]

Caucasian

4 bp insertion & deletion of 5kb starting at c.279

Insertion & deletion

Y

Y

Y

Y

NA

NA

NA

Y

Autism spectrum disorder; epilepsy with grand mal seizures

[9]

Israel

c.505dupA mutation

Duplication

N

Y

NA

Y

Y

NA

N

 

Renal failure, splenomegaly

[8]

Netherlands

c.326delA

Deletion

NA?

Y?

NA

Y?

NA

NA

NA

NA

NA

[12]

Italy

Deletion of 11-31kb

Deletion

N

Y

NA

NA

NA

NA

NA

Y

Axial hypotonia and reduced motor coordination

[10]

Italy

c.148_152delCAC AC

Deletion

N

Y

NA

Y

NA

NA

NA

Y

Failure to thrive, very poor motor performances and speech

[10]

Italy

c.277delTc.148_15 2delCACAC

Deletion

N

Y

NA

NA

NA

NA

NA

Y

Axial hypotonia and reduced motor coordination

[10]

Kuwait (Indian)

c.229delC

Deletion

N

Y

NA

Y

NA

NA

NA

Y

Failure to thrive, very poor motor performances and speech

[10]

Iraq

Deletion of at least 150 kb

Deletion

N

Y

NA

NA

NA

NA

NA

Y

Axial hypotonia and reduced motor coordination

[10]

Netherlands

c.277delT

Deletion

N

Y

NA

NA

NA

NA

NA

Y

Axial hypotonia and reduced motor coordination

[10]

Italy

partial exon 1 and entire exon 2

Deletion

N

Y

NA

Y

NA

NA

NA

Y

Severe nervous system impairment

[5]

Morocco

187_188delGG

Deletion

N

Y

Y

Y

Y

Y

NA

Y

Ataxia

[5, 13]

Amish

c.480A>G

A ->G

NA

Y

NA

Y

Y

NA

NA

Y

 

[5]

Peru

{arr[hg19]7p14.1 (40,140,770-40,265,451)x0}

a 125 kb homozygous deletion

NA

Y

Y

Y

NA

NA

NA

Y

Glutaric Aciduria type 3

[11]

China

rs747470385

-/G

N

Y

N

Y

Y

Y

Y

Y

 

This study

  1. The abbreviations of the titles of the columns are PS: Photosensitivity, HA: Hair Abnormality, FD: Facial deformity, MR: Mental Retardation, HG: Hypogenadism, O/O: Osteoporosis/Osteopenia, CT: Cataract, and SS: Short Stature