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] |