Table 1 Phenotypic features of the two patients with deletion in 1q44 described in this study and those published earlier
References | Boland et al. 2007 [3] | Hill et al. 2007 [4] | Caliebe et al. 2010 [5] | Zaki et al. 2012 [6] | Nagmani et al. 2012 [7] | Thierry et al. 2012 [8] | Ballif et al. 2012 [9] | Parlman et al. 2013 [10] | Gupta et al. 2013 [11] | Van et bon et al. 2008 [12] | Gai et al.,2015 [13] | Hemming et al. 2016 [14] | Depienne et al. 2017 [15] | Mohamed et al. 2018 [16] | Córdova-Fletes et al. 2019 [17] | Lloveras et al. 2019 [18] | Present study | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Number of Patients | 6 | 7 | 4 | 1 | 6 | 11 | 22 | 1 | 1 | 3 | 1 | 1 | 17 | 1 | 1 | 1 | 1 | 2 |
Gender | 3F/4Â M | 5F/2Â M | 3F/1Â M | M | 4F/2Â M | 8F/3Â M | 9Â M/ 13F | F | F | M | M | M | 10F/7Â M | F | M | M | M | M |
Age | 2 -5 years | 6–18 years | 1- 2 years | 2 years | 2–17 years |  | 1–14 years | 2 years | 3 years | 14 years | 5 and ½ years old | 14 years | 1–22 years | 3 years | 3years2M | 9 years | 3 years old | 9 months |
FD |  +  |  +  |  +  | RF, PM, MIC, TUL, LSE, SYN |  + in 3/6 |  +  |  +  | RF, TL, EP SFH, PM, SN, MIC, USP, T, LSE, WST | RF, HYP, SN | MIC, SN, TL, EP, USP, S, LSE, WST | RF, SN, USPF, WST, LSE, T | MIC, EP, USPF |  +  | RF, SFH, PM, MIC, SN, TL, USPF, LSE, WST | RF, SFH, PM, MIC, SN, T, USPF, WST, LSE, | - | RF, SFH, PM, SN, TL, EP, USPF, S, T, LSE, WST | RF, SFH, PM, HYP, MIC, SN, TL, EP, LSE, WST |
Microcephaly | 4/6 | 6/7 | ¾ |  +  | 5/6 | 1,2 | 7/22 | - |  +  |  +  |  +  |  +  |  +  |  +  |  +  |  +  |  +  |  +  |
DD/ID |  +  | 6/7 |  |  +  | 6/6 |  +  | – | – |  +  |  +  |  +  | – |  +  |  +  |  +  |  +  |  +  | - |
GR | – | 3/7 |  | – | – | – | – |  +  | – | – | – | – | – | – |  +  |  +  |  +  |  +  |
PD |  +  | – |  |  +  | – |  +  | – |  +  |  +  |  +  |  +  | – |  +  |  +  |  +  |  +  |  +  |  +  |
LR | – | – | 4/4 |  +  | – | 5/11 | – | – | – |  +  |  +  | – |  +  |  +  | – |  +  |  +  | - |
BP | – | – |  | - | 2/6 | 4/11 | – | – | – |  +  | – | – | – |  +  | – |  +  |  +  | - |
Epilepsy |  +  | 6/7 | 4/4 |  +  | 2/6 | 11/11 | 10/22 | – |  +  |  +  |  |  +  |  +  |  +  | – |  +  | – |  +  |
Axial hypotonia | – | – | 4/4 |  +  | 1/6 | 4/11 |  +  |  +  | – |  +  |  +  |  +  | – | – |  +  | – | – |  +  |
FD | – | – | – | – | – | – | – |  +  | – |  +  |  +  |  +  | – | – | – | – | – | – |
GA | – | – | 1/4, Hypos | Hypog, AP | – | 2/11 Crypto | – | – | – | – | – | – | – | – | Bilateral crypto | – | hypos | Micropenis TE |
CM | – | – | 2/4 VSD, ASD | – | 3/6 ASD, TOF, VSD | 1/11 | – | – | – | – | – | – | – | – | VSD, ASD | – | ISD, PS | – |
OM | – | – | – | Clino | – | – | – | SHF | Polydac | Scoliosis | – | Scoliosis | – |  | Campto, GV, TV | – | Polydac | Polydac |
Brain IR | ACC: 5/6 | ACC: 6/7 | ACC in 4/4 | ACC | ACC in 4/6 | ACC in 1/11 | ACC in 7/22 | HCC Pach, Vent | HCC | HCC | Nle CC | P ACC | ACC in 15/17 | HCC | ACC | HCC | T CCA BA,DEM | HCC DVPWM |
Deleted region | 1q42q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q44 | 1q43q44 | 1q44 | 1q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q43q44 | 1q42q43 |
Deletion size (Mb) | 3,5 | 2 | 0,44 | 10,4 | 1,4 | 0,63 | 2 | 1,47 | 1,86 | 3,8 | 0,36 | 8 | 1,36 | 6,5 | 9,5 | 2,3 | 11,7 | 2,7 |
GP: Start hg 18/19 (pb) | 243,100,000 | 243,000,000 | 244,968,377 | 238,681,384 | 242,987,737 | 244,900,000 | 243,433,377 | 242,191,892 | 244,744,522 | - | 243,651,534 | 241,183,190 | 243,100,00 | 242,664,760 | 239,721,730 | 243,011,722 | 235,500,506 | 240,470,722 |
GP: End hg 18/19 (pb) | 245,715,000 | 245,000,000 | 245,394,377 | 249,190,989 | 244,331,570 | 245,100,000 | 245,433,377 | 243,660,791 | 246,608,189 | - | 24,4014,380 | 249,202,755 | 244,500,000 | 249,206,918 | 249,218,792 | 245,384,463 | 247,179,291 | 243,198,799 |
Involved genes | AKT3, CEP170, ZNF238 | CEP170, SDCCAG, AKT3 | FAM36A HNRNPU, EFCAB2, KIF2613 | PLD5, FMN2, RGS7, AKT3, ZNF238, HNRNPU, SMYD3 | CEP170, ZNF238, SDCCAG8 | HNRNPU, FAM36A, | AKT3, ZNF238, FAM36A, CIORF199, HNRNPU | PLD5 CEP170 | HNRNPU SMYD3 | PLD5, AKT3, ZNF238 CEP170 | AKT3 | PLD5, CEP170, SDCCAG8, AKT3, KMO ZNF238, HNPNPU | AKT3, HNRNPU, ZNF238 | CEP170, AKT3, ZNF238, HNRNPU | AKT3, ZNF238, HNRNPU | AKT3, ZNF238, SDCCAG8, HNRNPU | AKT3, PLD5, ZNF238, SDCCAG8 FMN2, RGS7, SMYD3,KMO,HNRNPU, CEP170 | AKT3, PLD5, SDCCAG8, ZNF238, CEP170 HNRNPU, |
Inheritance | – | – | De novo | De novo |  | De novo | De novo | De novo | – | De novo | – | De novo |  | – | – | – | De novo | De novo |