Table II. Complete phenotypic information for CHRNA7 CNV patients.
Breakpoints | Number of Cases | Inheritance | Phenotypes | References |
---|---|---|---|---|
Deletions | ||||
| ||||
14 Total | 50% (n=7) Unknown | 75% (n=9) Cognitive Deficitsa | [2], [7], [8], [9], [10], [11], [13], [14], [16], [22] | |
12 Affected | 28.6% (n=4) De Novo | 66.7% (n=8) Language Impairment | ||
2 No Reported Phenotype | 14.3% (n=2) Maternal (Affected) | 58.3% (n=7) Dysmorphic Features | ||
7.1% (n=1) Maternal (Unaffected) | 50% (n=6) Medical Condition | |||
BP3-BP5 | 41.7% (n=5) Seizures b | |||
41.7% (n=5) Overweight c | ||||
41.7% (n=5) ADHD d | ||||
41.7% (n=5) Abnormal Behavior | ||||
33.3% (n=4) Neurological Condition | ||||
33.3% (n=4) Hypotonia | ||||
33.3% (n=4) Eye Pathologies | ||||
25% (n=4) Short Stature | ||||
25% (n=4) ASD | ||||
| ||||
208 Total | 58.2% (n=121) Unknown | 55% (n=105) Cognitive Deficits | [2], [8], [9], [10], [11], [12], [13], [15], [16], [18], [19], [20], [21], [22], [23], [24], [26], [27], [28], [29], [30], [31],[32], [33], [34], [35], [36], [37], [38], [39], [40], [41], [42], [43], [44], [45], [46], [49] | |
191 Affected | 14.4% (n=39) Maternal (Unaffected) | 37.2% (n=71) Seizures | ||
17 No Reported Phenotype | 8.7% (n=18) De Novo | 28.3% (n=54) Language Impairment | ||
5.3% (n=11) Paternal (Unaffected) | 24.6% (n=47) Dysmorphic Features | |||
5.8% (n=12) Maternal (Affected) | 24.1% (n=46) Abnormal Behavior | |||
3.4% (n=7) Paternal (Affected) | 13.6% (n=26) Schizophrenia | |||
13.1% (n=25) Mood Disorder e | ||||
11.5% (n=22) ASD | ||||
9.4% (n=18) ADHD | ||||
BP4-BP5 | 7.32% (n=14) Hypotonia | |||
7.32% (n=14) Medical Condition | ||||
6.8% (n=13) Neurological Condition | ||||
5.2% (n=10) Short Stature | ||||
4.7% (n=9) Eye Pathology | ||||
4.2% (n=8) Microcephaly | ||||
3.1% (n=6) Sleeping Problems | ||||
2.6% (n=5) Macrocephaly | ||||
2.6% (n=5) Overweight | ||||
| ||||
52.8% (n=19) Cognitive Deficits | [9], [13], [20], [32], [50], [52], [53], [54], [78] | |||
42 Total | 54.8% (n=23) Unknown | 36.1% (n=13) Seizures | ||
36 Affected | 16.7% (n= 7) Maternal (Affected) | 25% (n=9) Dysmorphic Features | ||
6 No Reported Phenotype | 11.9% (n=5) Paternal (Affected) | 19.4% (n=7) Abnormal Behavior | ||
7.1% (n=3) Maternal (Unaffected | 16.7% (n=6) ASD | |||
7.1% (n=3) Paternal (Unaffected) | 13.9% (n=5) Langauge Impairment | |||
2.3% (n=1) De Novo | 13.9% (n=5) ADHD | |||
D-CHRNA7-BP5 | 13.9% (n=5) Failure to Thrive | |||
11.1% (n=4) Mood Disorder | ||||
11.1% (n=4) Hypotonia | ||||
11.1% (n=4) Medical Condition | ||||
8.3% (n=3) Neurological Condition | ||||
8.3% (n=3) Overweight | ||||
8.3% (n=3) Eye Pathology | ||||
| ||||
Duplications | ||||
| ||||
4 Total | 50% (n=2) Unknown | 75% (n=3) Cognitive Deficits | [16], [17] | |
3 Affected | 25% (n=1) Maternal (Affected) | 50% (n=2) ASD | ||
1 No Reported Phenotype | 25% (n=1) Paternal (Unaffected) | 50% (n=2) Mood Disorder | ||
BP3-BP5 | 50% (n=2) ADHD | |||
25% (n=1) Hypotonia | ||||
25% (n=1) Overweight | ||||
| ||||
18 Total | 61.1% (n=11) Unknown | 43.8% (n=7) Cognitive Deficits | [16], [27], [42], [46], [47], [48], [49] | |
16 Affected | 27.8% (n=5) De Novo | 43.8% (n=7) ASD | ||
2 No Reported Phenotype | 5.6% Paternal (Unaffected) | 31.3% (n=5) Language Impairment | ||
5.6% Maternal (Unaffected) | 31.3% (n=5) ADHD | |||
BP4-BP5 | 25% (n=4) Abnormal Behavior | |||
25% (n=4) Dysmorphic Features | ||||
18.8% (n=3) Seizures | ||||
18.8% (n=3) Mood Disorder | ||||
| ||||
67 Total | 79.1% (n=53) Unknown | 28.3% (n=17) Cognitive Deficits | [1], [31], [32], [43], [46], [49], [53], [57], [58], [59] | |
60 Affected | 7.5% (n=5) Maternal (Unaffected) | 28.3% (n=17) Schizophrenia | ||
7 No Reported Phenotype | 6% (n=4) Maternal (Affected) | 18.3% (n=11) ADHD | ||
4.5% (n=3) Paternal (Unaffected) | 18.3% (n=11) Mood Disorder | |||
3% (n=2) Paternal (Affected) | 15% (n=9) ASD | |||
D-CHRNA7-BP5 | 11.7% (n=7) Hypotonia | |||
8.3% (n=5) Language Impairment | ||||
6.7% (n=4) Seizures | ||||
5% (n=3) Neurological Condition | ||||
5% (n=3) Dysmorphic Features |
BP: breakpoint, EEG: electroencephalogram, ASD: autism spectrum disorder, ADHD: attention deficit hyperactivity disorder,
Cognitive deficits include intellectual disability, developmental delay, and learning difficulties;
Seizures includes epilepsy and abnormal EEG findings;
Overweight includes obesity;
ADHD includes hyperactivity and attention difficulties;
Mood disorders include anxiety, bipolar disorder, depression, and unspecified mood disorders.