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Table 1 List of mutations of BMPER reported previously and in the current study

From: Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Numbera

cDNA

Protein

Frequency in ExAC

In-silico analysisb

Zygosity in proband

Diagnosis

Reference and comment

1

c.925C>T

p.Gln309*

NR

NS

Homozygous

DSD

[13]

2

c.26_35del10ins14

p.Ala9Glufs*4

NR

NS

Compound heterozygous

DSD

[8, 10, 11, 13]; same patient in four articles

3

c.1032+5G>A

 

NR

Splice

4

c.514C>T

p.Gln172*

NR

NS

Heterozygousc

DSD

[13]

5

c.1109C>T

p.Pro370Leu

NR

Deleterious

Compound heterozygous

DSD

[13]

6

c.1638T>A

p.Cys546*

NR

NS

7

c.310C>T

p.Gln104*

NR

NS

Homozygous

DSD

[9]; two patients

8

c.251G>T

p.Cys84Phe

NR

Deleterious

Compound heterozygous

attenuated DSDd

[12]

9

c.1078+5G>A

 

NR

Splice

10

c.416C>G

p.Thr139Arg

NR

Deleterious

Compound heterozygous

ISD

Current study

11

c.942G>A

p.Trp314*

NR

NS

12

c.1672C>T

p.Arg558*

0.00004119e

NS

Homozygous

ISD

Current study

13f

c.1988G>A

p.Cys663Tyr

0.0000082

Deleterious

Heterozygous

Current study

  1. NR not reported; NS nonsense mutation; DSD diaphanospondylodysostosis; ISD ischiospinal dysostosis
  2. a Mutation number is also used in Fig. 1
  3. b Prediction according to SIFT (http://sift-dna.org), AlignGVGD (http://agvgd.iarc.fr/), MutationTaster (http://www.mutationtaster.org/), ExAC (http://exac.broadinstitute.org) and PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2)
  4. c Only one mutation identified in this patient
  5. d It was described as attenuated DSD in the reference, but we consider them more likely to be ISD
  6. e Not present in 2,040 normal alleles from a Korean population (in-house data)
  7. f Variant of unknown clinical significance, found in patient with mutation No. 12