The Study Findings table contains information on the genetic findings of a particular NESHIE or CP genetic study. Variants with statistically-significant associations with NESHIE or CP have p-values < 0.05. Odds ratio values quantify the strength of association of a variant allele with NESHIE or CP.
Paper: May et al., 2021
DOI: 10.1111/dmcn.14948
Study population description: Asian, Hispanic, Caucasian; (Participants from clinical genetics and neurology clinics in New York Presbyterian Hospital and Columbia University Irving Medical Centre; 151 unrelated individuals with CP
Regional classification: East Asia, America, Europe
Sequencing or genotyping methods: Whole exome sequencing
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| NM_003073.5:c.1121G>A | A allele | CP | Birth asphyxia; spastic | Not determined | None | None |
| NM_003073.5:c.1121G>A | A allele | CP | Birth asphyxia; spastic | Not determined | None | None |
| NM_006920.6:c.2492_2495delGTTC | - | CP | Birth asphyxia, intravascular stroke/hemorrhage; spastic bilateral CP | Not determined | None | None |
| NM_001845:c.2263G>A | T allele | CP | Birth asphyxia; spastic quadriparesis, left-sided hemiparesis | Not determined | None | None |
| NM_138736.3:c.662C>A | A allele | CP | Birth asphyxiia, intravascular hemorrhage; right side hemiparesis, spasticity, dystonia | Not determined | None | None |
| NM_153638.3:c.1412+1G>C | C allele | CP | Birth asphyxia; generalised dystonia, spastic bilateral CP | Not determined | None | None |