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: Thys et al., 2024
DOI: 10.1016/j.pediatrneurol.2024.07.019
Study population description: European; 337 CP patients recruited at the Cerebral Palsy Reference Center of Antwerp
Regional classification: European
Sequencing or genotyping methods: Exome sequencing
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| rs797045655 | A allele | CP | Spastic diplegia, Developmental disorder, epilepsy, Autism spectrum disorder | Not determined | None | None |
| rs797044951 | A allele | CP | Developmental disorder, axial hypotonia, Intellectual disability, quadriplegia | Not determined | None | None |
| rs1057518760 | T allele | CP | Spastic diplegia, Autism spectrum disorder, Attention deficit hyperactivity disorder, Developmental disorder, Intellectual disability. Father was similarly affected. | Not determined | None | None |
| NM_001845.6:c.1466-1G>A | T allele | CP | Spastic quadriplegia, epilepsy, language developmental delay, dysarthria. Mother presented with hemorrhagic stroke at age <40y, leading to genetic testing in child. | Not determined | None | None |
| rs2139162750 | T allele | CP | Spastic hemiplegia, congenital cataract, vision problems, Intellectual disability, epilepsy, Autism spectrum disorder | Not determined | None | None |
| rs1555303010 | T allele | CP | Spastic hemiplegia, Developmental disorder, Intellectual disability ventricular septum defect, laryngomalacia, feeding problems, microphtalmia, microcornea | Not determined | None | None |
| rs797045050 | T allele | CP | Spastic diplegia, Developmental disorder, Intellectual disability, behavior | Not determined | None | None |
| rs1553638086 | A allele | CP | Spastic diplegia, Intellectual disability, Developmental disorder | Not determined | None | None |
| rs548204329 | A allele | CP | Developmental disorder, epilepsy, spastic diplegia | Not determined | None | None |
| rs1064795534 | T allele | CP | Developmental disorder, Intellectual disability, spastic diplegia, Attention deficit hyperactivity disorder | Not determined | None | None |
| NM_001244008.2:c.641G>C | G allele | CP | Spastic diplegia, epilepsy, Intellectual disability, Developmental disorder | Not determined | None | None |
| NM_172107.4:c.881C>T | A allele | CP | Epileptic encephalopathy, dystonia, feeding difficulties, Developmental disorder, Intellectual disability | Not determined | None | None |
| NM_001845.6:c.1728_1738delinsCCAAGGG | TACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACC:CCTTGG allele | CP | Spastic quadriplegia, lesional epilepsy, Developmental disorder, Intellectual disability, dysarthria. Father was later diagnosed with microscopic hematuria, otherwise asymptomatic. | Not determined | None | None |