Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

CONCLUSION: This study reveals that the cognitive phenotype of patients with POGZ pathogenic variants can range from learning disabilities to severe ID. It highlights that pathogenic variations in the same genes can be reported in a large spectrum of neurocognitive profiles, and that children with learning disabilities could benefit from next generation sequencing techniques.
PMID: 33277917 [PubMed - as supplied by publisher]

Source: Clinical Genetics - December 5, 2020 Category: Genetics & Stem Cells Authors: Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogne B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K Tags: Clin Genet Source Type: research