ATR-16 syndrome phenotypic severity
| Case* | Sex | Deletion coordinates (hg18) | Methods | Origin | Mechanism | MR | AT | SD | DD | FD | SA | Reference(s) |
| JT | F | 34,113 bp to 301,556 bp† | F,SB,S | Mat | De novo | – | + | – | – | – | – | Horsley, 20019 |
| OY‡ | F | 0 bp to 308,540 bp | F,SB,S | Pat | De novo | – | + | – | – | – | – | This study |
| CS‡(+1)§ | F | ~36,766 bp to 328,247 bp | A | Pat | Inherited | – | + | – | – | – | – | This study |
| BF (+5)§ | M | 166,680 bp to 342,681 bp | WGS | na | De novo | – | + | – | – | – | – | Heireman etal24 |
| CV | F | ~1 22 000 bp to 2 99 000–3 75 000 bp | M | na | na | – | + | – | – | – | – | Coelho etal41 |
| AB | na | 0–45,799 bp to 3 50 916–4 00 279 bp | M | na | na | – | + | – | – | – | – | Harteveld etal42 |
| LA‡ | M | ~94,214bp to 502,227 bp | A | Pat | Inherited | – | + | + | +/- | – | – | This study |
| TY(MI)‡ | M | 0 bp to 596,289 bp | F,SB,S | na | na | – | + | – | – | – | – | This study |
| TY(Mi)‡ | F | 0 bp to 596,289 bp | F,SB,S | Pat | Inherited | – | + | – | – | – | – | This study |
| YA‡ | F | 0 bp to 747,840 bp | F,A | na | na | na | + | + | + | + | – | This study |
| BA‡ | F | 0 bp to 762,370 bp | F,SB,S | Pat | De novo | – | + | – | + | – | – | Daniels etal43 |
| GZ | M | 0–45,799 bp to 8 69 698–9 00 907 bp | M | Mat | Inherited | + | – | – | – | – | Harteveld etal18 | |
| TN(Pa)‡ | F | 0 bp to 966,710 bp | F,SB,S | Mat | De novo | +/- | + | + | + | + | – | Daniels etal43 |
| TN(Pe)‡ | M | 0 bp to 966,710 bp | F,SB,S | Mat | Inherited | + | + | + | + | + | – | Daniels etal43 |
| TN(Al)‡ | M | 0 bp to 966,710 bp | F,SB,S | Mat | Inherited | + | + | + | + | + | – | Daniels etal43 |
| FI.2 | F | 0–45,799 bp to~9 76 591 bp | M | na | na | – | + | – | – | – | – | Bezerra etal20 |
| FII.1 | M | 0–45,799 bp to~9 76 591 bp | M | Mat | Inherited | – | + | – | – | – | – | Bezerra etal20 |
| FII.2 | M | 0–45,799 bp to~9 76 591 bp | M | Mat | Inherited | – | + | – | – | – | – | Bezerra etal20 |
| FII.4 | F | 0–45,799 bp to~9 76 591 bp | M | Mat | Inherited | – | + | – | – | – | – | Bezerra etal20 |
| FIII.1 | M | 0–45,799 bp to~9 76 591 bp | M | Mat | Inherited | – | + | – | – | – | – | Bezerra etal20 |
| GIB | F | ~1 00 000 bp to~1,000,000 bp | F,A | na | De novo | + | + | + | + | + | – | Gibson, 200844 |
| SH(Pa)ঠ| M | 34,037 bp to 1,132,584 bp | F,SB,S | Mat | Inherited | + | + | na | + | + | + | This study |
| SH(Ju)ঠ| F | 34,037 bp to 1,132,584 bp | F,SB,S | na | na | Р| + | na | Р| Р| Р| This study |
| NL‡ | M | 0–23 949 bp to~1,246,849 bp | A,M | na | De novo | – | + | – | – | – | – | Phylipsen etal45 ; This study |
| DO | F | 0 bp to 1,175,000–1,805,487 bp | SB | Mat | Unknown | + | + | + | + | + | – | Wilkie etal5 |
| CJ‡ | M | 120,000 bp to 1,357,000 bp | F,A | Mat | De novo | + | + | + | + | + | + | This study |
| MY‡ | F | 0 bp to 1,408,950 bp | F,SB,S | Mat | De novo | + | + | + | + | + | – | This study |
| BAR‡ | M | 0–23,949 bp to~1,440,000 bp | A,M | na | De novo | – | + | – | – | – | – | This study |
| SCH | M | ~281,65 bp to 1,447,989 bp | F,A,M | na | De novo | + | + | + | + | + | + | Scheps etal28 |
| PV | M | 0–45,799 bp to 1,615,979–1,730,426 bp | M | na | De novo | + | + | + | + | + | + | Harteveld etal18 |
| FT | F | 0–45,799 bp to 1,880,277–1,913,866 bp | M | na | De novo | + | + | + | + | + | + | Harteveld etal18 |
| BO | M | 0 bp to 1,886,763 bp | C,F,SB, S | Pat | De novo | + | + | na | + | + | + | Wilkie etal5 ; Lamb etal46 ; Daniels etal43 |
| HN | M | 0–45,799 bp to 1,913,923–1,928,982 bp | M | na | De novo | + | + | + | + | + | + | Harteveld etal, 200718 |
| IM‡ | F | 0 bp to 2,011,646 bp | F,SB,A | na | na | + | + | – | + | +/- | + | Felice 47 ; Fei etal48 ; Daniels etal43 |
| LIN‡ | F | 0 bp to 2,013,657 bp | F,SB,S | Pat | De novo | + | + | + | + | + | – | Lindor etal49 ; Daniels etal43 |
+ indicates presence of an abnormality; – indicates absence and +/− indicates borderline assessment.
Methods column summarises the methods used to refine or identify the breakpoint:C, cytogenetics; F, FISH; WGS, Whole Genome Sequencing; M, MLPA; SB, Southern blot; A, microarray, S, breakpoint has been DNA sequenced.
*ATR-16 individuals are identified by unique codes, references are shown in figure 2. Pale green rows indicate ATR-16 individuals with only alpha-thalassemia, yellow rows indicate ATR-16 individuals also have at least one other abnormality but no defects of the axial skeleton and orange rows indicate the individual also has skeletal defects.
†40 bp ambiguity, values taken from midpoint
‡Indicates individuals whose deletion breakpoints have been cloned or refined in this work.
§There numbers refer to other family members who carry this deletion and have no associated abnormalities apart from alpha-thalassemia
¶Individuals have discordant abnormalities, most likely due to a deletion in NRXN1.
A, microarray; AT, alpha-thalassaemia; C, cytogenetics; DD, developmental delay; F, FISH; FD, facial dysmorphism; M, Multiplex Ligation-dependent Probe Amplification (MLPA); MR, mental retardation; na, data not available; S, breakpoint has been DNA sequenced; SA, skeletal abnormalities; SB, Southern blot; SD, speech delay; WGS, whole genome sequencing.