Table 2.
General genetic and clinical information of 12 ANK2-related patients
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | Male | Female | Male | Female | Male | Male | Female | Female | Male | Male | Female | Male |
| cDNA location | c.3632_3633del | c.2797-1G > A | c.922C > T | c.-288710_8555700del | c.2179-1G > A | c.3019C > T | c.-65884_ 2476923del |
c.1159_1160del | c.7360_ 7361delTC insA |
c.12881G > A | c.10768G > T | c.862C > T |
| Protein change | p.Ser1244Met(fs*5) | p.(?);- | p.Arg308* | N/a | p.(?);- | p.Arg1007* | N/a | p.Lys387Glu(fs*10) | p.Ser2454 Ile(fs*7) |
p.(?);- | p.Glu3590* | p.Arg288* |
| Mutation type | Deletion leading to frameshift | Probable leading to frame shift | Nonsense | Deletion | Splice site variant | Nonsense | Deletion | Deletion leading to frameshift | Indel leading to frameshift | Splice site variant | Nonsense | Nonsense |
| Inheritance | De novo | De novo | De novo | Unknown | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo |
| ID/DD | Mild | Mild | Mild | Mild | Mild* | Severe | None | Moderate | Mild | None | None | Mild |
| ASD | Yes | Yes | Probable | Yes | Unknown | Yes | Yes | No | No | N/a | N/a | Yes |
| Other behavioral problem | Gilles de la Tourette, ADHD, DCD | Attention difficulty | ADD | Unknown | Unknown | Agitation, sleep disturbances | Unknown | ADHD, agitation and aggression | ADHD, aggression | – | – | – |
| MRI | – | Normal | Normal | – | – | Normal | – | Hyperintensities and atrophy | – | Normal | Normal | – |
| Other | NRXN1: 2p16.3(50 991 243–51 289 649)x1 mat (deletion 4–5 exons | KNCQ3 variant, paternally inherited | Severe feeding difficulties (needing tube feeding) | SCN9A SCN9a c.555G>A (p.E519K); paternally inherited TRIO c.8120G>A (p.R2707Q) ALTE 11 months |
ALG13 ALG13 (c.3406G>T, p.G1136C) – hemizygous. Inherited from mom. NM_001099922. Genomic Coordinates (GRCh37): 110924346–111003877 |
Sleep apnea | Mild increase muscle tone, mild coordination deficit |
ID: intellectual disability; NDD: neurodevelopmental delay; ASD: autism spectrum disorder; n/a: not applicable; ADHD: attention deficit hyperactivity disorder; ADD: attention deficit disorder; DCD: developmental coordination disorder; ALTE: apparent life-threatening event