Table 1 Demographics, molecular results, and psychiatric features.
Case | Category | Age | CGG repeats | mRNA (SD) | FMRP | Full scale IQ | Dominant psychiatric feature |
|---|---|---|---|---|---|---|---|
1 | A | 9 | 150 | 2.56 (0.27) |
| 86 (WISC-IV) | Mood instability, ADHD |
2 | C | 53 | 180–690 | 3.85 (0.30) |
| 101 (WAIS-III) | Bipolar disorder NOS |
3 | B | 36 | 205 | 2.59 (0.1) | 6.04 | 51 (WAIS-III) | ADHD, schizophrenia, ID |
4 | B | 28 | 226 (260–445) | 3.85 (0.43) |
| 117 (WAIS-III) | Social phobia, OCD, schizotypical symptoms |
5 | C | 58 | 20–800 | 2.98 (0.06) |
| 84 (WAIS-IV) | Bipolar I, OCD, panic disorder, generalized anxiety |
6 | B | 25 | 570, 730, 1090 (240) | 3.3 (0.04) | 33.75 | 61 (WAIS-III) | ASD, Social Phobia, auditory hallucinations, ID |
7 | B | 22 | 255 (270–535) | 5.79 (0.13) | 47.33 | 65 (WASI) | Psychosis in past, anxiety disorder, OCD, ID |
8 | B | 22 | 215, 900 (220, 335) | 2.30 (0.16) | 13.42 | 45 (WISC-IV) | Social phobia, ASD symptoms, ID |
9 | D | 23 | 160–190 | 5.02 (0.49) | 70.00 | 86 (WISC-III) | ASD, psychosis |
10 | D | 19 | 170 | 4.98 (0.32) | 36.00 | 54 (WAIS-III) | ASD, paranoid thinking, anxiety disorder, ID |
11 | D | 57 | 133 | 3.59 (0.28) |
|
| ASD, past ADHD |
12 | D | 24 | 67 | 2.40 (0.23) | 18.30 | 110 (WAIS-III) | ASD, bipolar II disorder, OCD |
13 | C | 27 | 570, 750, 890 (104) | 2.38 (0.05) |
| 60 (SB5) | Anxiety disorder, ID, “socially awkward” |
14 | D | 34 | 88 | 2.8 (0.18) |
| 107 (WAIS-III) | Biploar I disorder, substance abuse, stress disorder, past ADHD |
- (A) Methylated Premutation, (B) Methylation Mosaicism, (C) Size/Methylation Mosaicism, (D) Premutation.
- Under CGG repeats column the parentheses enclose the allele sizes that are unmethylated.
- Normal FMR1mRNA range: 1.42 ± 0.26 (Tassone et al.5).
- FMRP levels given in percentage of the mean levels calculated for control males.
data not available.- ASD autism spectrum disorder, ADHD attention deficit/hyperactivity disorder, ID intellectual disability, OCD obsessive compulsive disorder, NOS not otherwise specified, SB5 Stanford Binet Intelligence Scales 5th edition, WASI Wechsler Abbreviated Scales of Intelligence, WAIS Wechsler Adult Intelligence Scale, WISC Wechsler Intelligence Scale for Children.
data not available.