Table 1.
Summary of family’s genotypes and phenotypes
| −001 | −002 | −003 | −004 | |
|---|---|---|---|---|
| Sex | F | M | M | F |
| Microarray |
NRXN1 +/+ MBD5 +/+ |
NRXN1 del/+ MBD5 del/+ |
NRXN1 del[pat]/+ MBD5 del[pat]/+ |
NRXN1 del[pat]/+ MBD5 del[pat]/+ |
| WGS | - | NLGN1, c.G418T [p.D140Y] | ASB14, c.461_462del [p.L154fs] NLGN1, c.G418T [p.D140Y] |
Targeted Sanger: NLGN1 +/+ |
| Clinical diagnosis | None | None | ASD, ID, ADHD | None |
| IQ | NA | NA |
WPPSI-III FSIQ=53, VIQ=56, NVIQ=65 |
WASI FSIQ=121, VIQ=124, NVIQ=112 |
| Vineland Adaptive Behavior Scales (comm=communication, daily=daily living) | NA | NA | Comm 3%ile, daily 1%ile, social <1%ile | NA |
| Morphology (HC=head circumference) | HC=56 cm, height=166.4cm, weight=60.3kg (age 45y) | HC=58 cm, height=182.9cm, weight=83.9kg (age 44y) | HC=57.9cm, Height=166.5cm, weight=58.1kg (age 12:10) | HC=51 cm, height=106.7cm, Weight=17.7 kg (age 6:6) |
| Medical | Nil | Nil | Nil | Nil |
| Language | CC-A: Language 42%ile, pragmatics 7%ile, social engagement 7%ile | CC-A: Language 7%ile, pragmatics 9%ile, social engagement 19%ile |
OWLS: Standard score=50 (<0.1%ile) CCC: GCC=30 (1%ile) |
CCC: GCC=71 (32%ile) |
| SRS | T-score=61 (normal) | T-score=43 (normal) | NA | T score=45 (normal) |
| PPVT | 109 (73%ile) | 101 (%ile) | 86 (9%ile, aged 7:4) | 73 (86%ile, aged 3:7) |
| RMET | 31 (86% correct) | 19 (53% correct) | NA | NA |
NA=not available; CC-A=communication checklist - adult; CCC=children’s communication checklist; OWLS=oral and written language scales; SRS=social responsiveness scale; PPVT=Peabody Picture Vocabulary Test; RMET=Reading the Mind in the Eyes Test.