Table 1.
Molecular Summary of the Known, Probably, and Possibly Causative Arthrogryposis Genes in the Cohort
| Gene | Proband | Nucleotide (Protein) | Zygosity | AOH Block Around the Gene (Mb) | Total AOH (Mb) |
|---|---|---|---|---|---|
| Known Causative Genes | |||||
| CHRNG | BAB8511 | c.753_754del (p.Val253Alafs∗44) | Hmz | 20.8 | 162.1 |
| BAB8571 | c.256C>T (p.Arg86Cys) | Hmz | 25.8 | 251.1 | |
| BAB8603 | c.256C>T (p.Arg86Cys) | Hmz | 6.7 | 154.5 | |
| BAB8685 | c.753_754del (p.Val253Alafs∗44) | Hmz | 19.0 | 248.8 | |
| BAB9851 | c.753_754del (p.Val253Alafs∗44) | Hmz | 22.3 | 123.3 | |
| BAB9942 | c.256C>T (p.Arg86Cys) | Hmz | 3.5 | 557.7 | |
| ECEL1 | BAB8223 | c.1630C>T (p.Arg544Cys) | Hmz | 3.3 | 199.2 |
| BAB9537 | c.1581+1G>A | Hmz | 14.2 | 164.4 | |
| BAB10711 | c.1916C>T (p.Ser639Phe) | Hmz | 14.7 | 238 | |
| NEB | BAB8518 | c.24988C>T (p.Arg8330∗) | Hmz | 73.4 | 151.2 |
| COL12A1 | BAB8843 | c.1488dup (p.Phe497Ilefs∗5) | Hmz | 20.8 | 297.9 |
| KLHL7 | BAB8095 | c.1051C>T (p.Arg351∗) | Hmz | 14.1 | 36.2 |
| BAB8098 | 21.7 | 96.5 | |||
| BAB8652 | c.1022del (p.Leu341Trpfs∗9) | Hmz | 15.5 | 248.5 | |
| BAB10699 | c.565C>T (p.Arg189∗) | Hmz | 26.0 | 354.3 | |
| BAB10705 | 22.9 | 238.2 | |||
| MYBPC1 | BAB8515 | c.32A>G (p.Glu11Gly) | Hmz | 25.8 | 351.9 |
| MYBPC2 | BAB9540 | c.920T>C (p.Val307Ala) | Comp Htz | – | 156.1 |
| c.3194C>T (p.Ala1065Val) | |||||
| MFN2 | BAB3941 | c.526G>A (p.Gly176Ser) | Hmz | 0.8 | 99.6 |
| SYNE1 | BAB7084 | c.2839G>A (p.Glu947Lys) | Comp Htz | – | 17.7 |
| c.21164A>G (p.Lys7055Arg) | |||||
| PLEC | BAB7079 | c.6523A>G (p.Lys2175Glu) | Comp Htz | – | 8.2 |
| c.8813C>T (p.Thr2938Met) | |||||
| POR | BAB8694 | c.859G>C (p.Ala287Pro) | Hmz | 13.5 | 102.8 |
| HSD17B4 | BAB8832 | c.1417C>T (p.Arg473Trp) | Hmz | 49.0 | 202.9 |
| BAB8835 | 60.7 | 165.3 | |||
| POMGNT1 | BAB8986 | c.461C>A (p.Pro154His) | Hmz / Hmz | 29.3 | 168.4 |
| c.550C>T (p.His184Tyr) | |||||
| FKBP10 | BAB9244 | c.890_897dup (p.Gly300∗) | Hmz | 4.3 | 154.5 |
| TGFB3 | BAB9703 | c.171del (p.Glu58Serfs∗4) | Hmz | 48.5 | 183.4 |
| BAB9704 | 30.1 | 480.7 | |||
| TTN | BAB7779 | c.2370+2T>C | Comp Htz | – | 34.2 |
| c.67279C>T (p.Arg22427∗) | |||||
| IGF1 | BAB9740 | c.156dup (p.Leu53Alafs∗5) | Hmz | 15.7 | 289.3 |
| BAB9741 | 6.6 | 208.3 | |||
| TOR1A | BAB10702 | c.506T>C (p.Phe169Ser) | Hmz | 11.8 | 196.4 |
| MYH3 | BAB3964 | c.2015G>A (p.Arg672His) | Htz | – | 30.4 |
| BAB9848 | – | 26.1 | |||
| TNNT3 | BAB3928 | c.163C>T (p.Arg55Cys) | Htz | – | 10.4 |
| SYT2 | BAB7308 | c.1081G>C (p.Asp361His) | Htz | – | 65.5 |
| PIEZO2 | BAB8789 | c.8181_8183del (p.Glu2727del) | Htz | – | 208.2 |
| TRPV4 | BAB8991 | c.806G>A (p.Arg269His) | Htz | – | 39.5 |
| PQBP1 | BAB8090 | c.463C>T (p.Arg155∗) | Hemi | – | 24.2 |
| Probably Causative Genes | |||||
| RYR3 | BAB7845 | c.2486G>A (p.Arg829His) | Hmz | 1.8 | 247.5 |
| PAED187 | c.2000A>G (p.Asp667Gly) | Comp Htz | – | 5.5 | |
| c.11164+1G>A | |||||
| BAB8988 | c.8939G>T (p.Arg2980Leu) | Hmz | 12.0 | 149.6 | |
| MYOM2 | BAB8905 | c.621C>G (p.Ser207Arg) | Hmz | 7.2 | 312.9 |
| IN076 | c.2797C>T (p.Gln933∗) | Hmz | 7.2 | 369.1 | |
| ABCA7 | BAB6807 | c.5092C>T (p.Arg1698Trp) | Hmz | 3.8 | 153.9 |
| BAB6808 | 3.0 | 180.2 | |||
| BAB10708 | c.3076C>T (p.Arg1026Cys) | Comp Htz | – | 233.8 | |
| c.4045C>T (p.Arg1349Trp) | |||||
| ERGIC1 | BAB8802 | c.782G>A (p.Gly261Asp) | Hmz | 30.8 | 274.6 |
| SPTBN4 | BAB8691 | c.6433G>A (p.Ala2145Thr) | Hmz | 3.4 | 183.9 |
| Possibly Causative Genes | |||||
| MID1IP1 | BAB8397 | c.297C>G (p.Asn99Lys) | Hemi | – | 374.7 |
| DRG1 | BAB8807 | c.118C>T (p.Arg40∗) | Hmz | 7.6 | 251.6 |
| TANC1 | c.2830C>T (p.His944Tyr) | Hmz | 10.3 | ||
| MYOM3 | BAB8532 | c.3534+56C>T | Comp Htz | – | 107.2 |
| c.1684G>A (p.Val562Ile) | |||||
| TNRC6C | BAB8688 | c.1022G>A (p.Gly341Glu) | Hmz | 7.0 | 132.0 |
| FLII | BAB7710 | c.2590C>T (p.Arg864Trp) | Hmz | 2.2 | 257.4 |
| TAF9B | BAB8400 | c.133C>A (p.Arg45Ser) | Hemi | – | 110.6 |
| MED27 | BAB8606 | c.770C>T (p.Pro257Leu) | Hmz | 11.8 | 195.2 |
| BAB8609 | 2.0 | 233.7 | |||
| CACUL1 | BAB9729 | c.910_911del (p.Leu304Ilefs∗3) | Hmz | 10.0 | 158.9 |
| FGFRL1 | BAB3944 | c.124C>T (p.Arg42Trp) | Hmz | 3.4 | 290.2 |
| TMEM214 | BAB5192 | c.764G>A (p.Arg255Gln) | Hmz | 15.9 | 220.3 |
| NR2C1 | BAB8086 | c.544+1G>C | Hmz | 4.3 | 231.7 |
| BAB8087 | 6.7 | 126.3 | |||
| PRDM2 | BAB9309 | c.4283_4295del (p.Leu1428Glnfs∗15) | Htz | – | 284.5 |
| FAT1 | BAB8356 | c.6026A>G (p.Asn2009Ser) | Hmz | 2.0 | 142.9 |
Abbreviations are as follows: Mb = megabase, AOH = absence of heterozygosity, Hmz = homozygous, Hemi = hemizygous, Htz = heterozygous, and Comp Htz = compound heterozygous.