Table 3.
Summary of the genotype–phenotype correlations in patients with a MYT1L microduplication.
Clinical phenotype | Genomic composition of the microduplication and position within MYT1L | ||||
---|---|---|---|---|---|
Intragenic* | 5′ end multiexona | 3′ end multiexona | multigenicb microduplication | Fisher-Freeman-Halton Exact test (p value) | |
Schizophrenia | 0% (0/10) | 0% (0/10) | 0% (0/10) | 100% (10/10) | 0.003c |
ID/DD | 9% (1/11) | 55% (6/11) | 0% (0/11) | 36% (4/11) | |
ASD | 37% (3/8) | 0% (0/8) | 0% (0/8) | 63% (5/8) | |
No neuropsychiatric phenotype | 27% (3/11) | 9% (1/11) | 18% (2/11) | 46% (5/11) | |
Prenatal cases | 0% (0/2) | 0% (0/2) | 0% (0/2) | 100% (2/2) | |
All | 17% (7/42) | 17% (7/42) | 4% (2/42) | 62% (26/42) |
aMicroduplications involving only MYT1L gene.
bMYT1L microduplications extending to neighboring genes.
cSignificative p value.