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Table 3 List of PIEZO2 mutations reported in the literatures

From: Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Family No.

cDNA Change

Predicted Protein Alteration

Inheritance Model

Origin

References

Arthrogryposis, distal, type 5

 1

c.2136G > A

p.M712I

AD

UK

Harris (2017) Orphanet J Rare Dis 12, 151 [24]

 2

c.2134A > G

p.M712 V

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 3

c.2404A > T

p.I802F

AD

USA

Coste (2013) Proc Natl Acad Sci U S A 110, 4667 [23]

 4

c.2993 T > C

p.M998 T

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 5

c.4456G > C

p.A1486P

AD

Japan

Okubo (2015) Am J Med Genet A 167, 1100 [22]

 6

c.6662C > T

p.T2221I

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 7

c.6668C > T

p.S2223 L

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 8

c.7067C > T

p.T2356 M

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 9

c.8153G > T

p.R2718L

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 10

c.8153G > C

p.R2718P

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 11

c.8215 T > C

p.S2739P

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 12

c.273_279delACCTGGC

P92Tfs*18

AD

Saudi Arabia

Alfares (2017) Mol Genet Metab 121, 91 [28]

Monies (2017) Hum Genet 136: 921 [Additional phenotype] [29]

 13

c.8181_8183delAGA

p.G2727del

AD

USA

Coste (2013) Proc Natl Acad Sci U S A 110, 4667 [23]

 14

c.8208delA

p.Y2737Ifs*7

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 15

c.8153G > A

p.R2718Q

AD

China

Current study

Marden-Walker syndrome

 16

c.8056C > T

p.R2686C

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

Gordon syndrome

 17

c.8057G > A

p.R2686H

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

 18

c.8057G > A

p.R2686H

AD

Germany

Alisch (2017) Am J Med Genet A 173: 254 [Additional case report] [30]

 19

c.8238_8245delGACTAGAG

p.W2746*

AD

NA

McMillin (2014) Am J Hum Genet 94, 734 [8]

Skeletal malformations and hypotonia

 20

c.4723C > T/c.5053C > T

p.R1575*/p.R1685*

AR

Bangladeshi

Chesler (2016) N Engl J Med 375, 1355 [25]

 21

c.5054G > C/c.5053C > T

p.R1685P/p.R1685*

AR

Mixed European and Japanese

Chesler (2016) N Engl J Med 375, 1355 [25]

Muscular atrophy with perinatal respiratory distress, arthrogryposis & scoliosis

 22

c.3020_3030del/c.3020_3030del

p.P1007Lfs*3/ p.P1007Lfs*3

AR

India

Vedove (2016) Am J Hum Genet 99, 1206 [21]

 23

c.5621delT/ c.5621delT

p.L1874Rfs*5/ p.L1874Rfs*5

AR

Turkey

Vedove (2016) Am J Hum Genet 99, 1206 [21]

 24

c.1550_1552delGCTinsCGAA/c.1550_1552delGCTinsCGAA

p.S517Tfs*48/ p.S517Tfs*48

AR

Libya

Vedove (2016) Am J Hum Genet 99, 1206 [21]

 25

c.493-?_917 +?del/c.493-?_917 +?del

 

AR

Pakistan

Vedove (2016) Am J Hum Genet 99, 1206 [21]

Arthrogryposis, distal with muscle weakness, scoliosis & proprioception defects

 26

c.1384C > T/c.1384C > T

p.R462*/p.R462*

AR

Turkey

Haliloglu (2017) J Hum Genet 62, 497 [26]

Short stature, scoliosis, gross motor impairment, progressive contractures, and loss of proprioception and touch sensation

 27

c.2708C > G/c.2708C > G

p.S903*/p.S903*

AR

Bangladesh

Mahmud (2017) Clin Genet 91, 470 [27]

  1. NA information not available