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: Fehlings et al., 2024
DOI: 10.1038/s41588-024-01686-x
Study population description: European, American and East Asian; 327 CP patient and parent trios recruited from the Childhood Cerebral Palsy Integrated Neuroscience Discovery Network and Canadian Cerebral Palsy Registry
Regional classification: Europe, America, East Asia
Sequencing or genotyping methods: Whole genome sequencing
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| NM_015570.4:c.690+63379A>G | G allele | CP | Unspecified CP Subtype, Down Syndrome, normal MRI, congenital malformation, prenatal growth restriction, intrapartum birth asphyxia, intrauterine infection, multiple fetuses, prolonged preterm premature rupture of membrane, family history of CP, prematurity | Not determined | None | None |
| NM_001008222.3:c.881+1G>T | A allele | CP | Hemiplegic CP with predominant white matter injury on MRI, intrauterine infection, intrapartum birth asphyxia, maternal illness (Crohn's disease, low iron levels during pregnancy, neonatal encephalopathy), Other: meconium aspiration syndrome, persistent pulmonary hypertension, neonatal abstinence syndrome | Not determined | None | None |
| rs672601347 | G allele | CP | Right spastic hemiplegia, MRI shows basal ganglia and thalamus lesion with cortico-subcortical injury and focal porencephaly, congenital malformation, maternal illness: lupus, intrauterine growth restriction, placental abnormality (multiple clots) | Not determined | None | None |
| NM_001845.6:c.1537-1G>A | T allele | CP | Spastic quadriplegia with periventricular haemorrhagic infarction on MRI, congenital malformation, intrauterine growth restriction, intrapartum birth asphyxia | Not determined | None | None |
| NM_017934.7:c.2514_2517dup | GCCAT allele | CP | Unspecified CP Subtype, Down Syndrome, normal MRI, congenital malformation, prenatal growth restriction, intrapartum birth asphyxia, intrauterine infection, multiple fetuses, prolonged preterm premature rupture of membrane, family history of CP, prematurity | Not determined | None | None |
| NM_138736.3:c.711A>C | C allele | CP | Spastic diplegic CP with normal MRI, intrapartum birth asphyxia, maternal illness: first and second trimester, vaginal bleeding | Not determined | None | None |
| rs2139162955 | T allele | CP | Dystonic CP and basal ganglia/thalamus lesions with cortical-subcortical lesion on MRI, intrauterine growth restriction, hyperbilirubinemia (high-intermediate risk level), neonatal hypoglycemia | Not determined | None | None |
| rs1594566006 | - | CP | Spastic hemiplegic CP with evidence of IVH/periventricular haemorrhagic infarction on MRI, toxic exposure | Not determined | None | None |