Table 3.
Summary table of de novo heterozygous missense variants in DPYSL genes and their contribution in neurodevelopmental diseases.
| Genes | Allele change | Residue change | Behavioral phenotype | References |
|---|---|---|---|---|
| DPYSL1 | c.1052T > C | p.Phe351Ser | ID, behavioral problems | Ravindran et al. (2022) |
| c.1280C > T | p.Thr427Met | ASD, no ID, delayed motor development | Ravindran et al. (2022) | |
| c.1766C > T | p.Pro589Leu | ID, ASD, delayed motor development | Ravindran et al. (2022) | |
| DPYSL2 | c.42C > A | p.Ser14Arg | ID | Suzuki et al. (2022) |
| c.1028G > A | p.Arg343His | ASD | Satterstrom et al. (2020); Database: SFARI | |
| c.1312C > A | p.His438Asn | ASD | De Rubeis et al. (2014); Database: SFARI, de novo-db | |
| c.1693C > T | p.Arg565Cys | ID | Suzuki et al. (2022) | |
| c.1801C > T | p.Arg601Cys | ASD | Iossifov et al. (2014); Database: SFARI, de novo-db | |
| DPYSL3 | c.415G > A | p.Val139Ile | ASD | Iossifov et al. (2014); Database: SFARI, de novo-db |
| c.1622C > A | p.Ser541Tyr | ASD | Tsutiya et al. (2017) | |
| DPYSL5 | c.121G > A | p.Glu41Lys | Severe ID Behavioral problems | Jeanne et al. (2021); Database: de novo-db |
| c.139G > A | p.Gly47Arg | ID Ritscher-Schinzel syndrome | Jeanne et al. (2021) | |
| c.241G > A | p.Asp81Asn | Developmental disorder | Database: de novo-db | |
| c.1090G > A | p.Val364Ile | ASD | Database: de novo-db |