Table 1: Clinical details of reported IQSEC2 mutations.
Signs, symptoms and presumed genetic etiologies are listed for reported cases of IQSEC2 mutations.
| Source of Information |
Sex | ID | Language delay |
Social delay |
Motor delay |
Motor Stereotypies |
Developmental Regression |
Microcephaly | Seizures | Hypotonia | Vision Impairment |
Truncating mutation |
De novo Mutation |
Mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Olson et al. 2015 | F | X | X | X | X | X | X | O | O | X | X | X | X | p.Asn91LysfsX112 (exon 1) |
| Morleo et al. 2008 | F | X | X | NR | X | NR | X | O | X | X | X | X | X | Translocation within intron 1 |
| Mau-Them et al. 2014, patient 1 | M | X | X | X | X | X | O | X | X | X | X | X | X | Duplication between exon 2 and the end of exon 4 |
| Rauch et al. 2012 / Mau-Them et al. 2014, patient 2 | M | X | X | X | X | X | O | X | O | X | X | X | X | p.Arg855X (exon 7) |
| Mau-Them et al. 2014, patient 3 | M | X | X | X | X | X | X | X | X | X | X | X | X | Duplication between intron 2 and the end of exon 8 |
| Redin et al. 2014 | M | X | X | X | X | X | NR | O | X | NR | X | X | X | p.Gln1033X (exon 11) |
| Epi4K consortium, 2013 | F | X | X | NR | X | NR | O | O | X | NR | NR | X | X | p.Gln1108X (exon 13) |
| Gandomi et al. 2013, patient 1 | M | X | X | X | X | X | O | O | X | X | X | X | X | p.Ser861Thr (exon 7) D |
| Gandomi et al. 2013, patient 2 | M | X | X | X | X | X | O | X | X | X | X | X | X | p.Cys684X (exon 5) |
| Shoubridge et al. 2010, probands | 32 M | 32/32 | 8/20A | 5/32 | 2/14 | NR | O A | O A | 5/32 | NR | 1/8 A | O B | O B | p.Arg359Cys (exon 4), p.Arg758Gln (exon 5), p.Gln801Pro (exon 6), p.Arg863Trp (exon 8) |
| Shoubridge et al. 2010, carriers | 25 F | 2 /25 C | NR | NR | NR | NR | NR | NR | 1/25 | NR | NR | O B | O B | p.Arg359Cys (exon 4), p.Arg758Gln (exon 5), p.Gln801Pro (exon 6), p.Arg863Trp (exon 8) |
| Totals (non-familial cases) | 6M, 3F | 9/9 | 9/9 | 7/7 A | 9/9 | 7/7 A | 3/8A | 4/9 | 7/9 | 7/7 A | 8/8 A | 9/9 | 9/9 |
A
Reported only for part of sample
B
Missense point mutations in 4 separate locations in 4 distinct families with X-linked inheritance
C
An additional 8 carrier female patients had borderline ID (IQ range 70-85)
D
Also causes splice site abolition. NR, not reported; X, present; O, absent.