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Mol Genet Genomic Med
; 10(5): e1910, 2022 05.
Article
in English
| MEDLINE
| ID: mdl-35266333
ABSTRACT
INTRODUCTION: DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder caused by loss-of-function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. CASE REPORT: In this case report, we present a new deletion case and summarize the clinical data of previously reported individuals, comparing the similarities and differences between cases caused by point mutations versus those which are caused by deletions in the 10p region. CONCLUSION: Some differential features could facilitate the diagnostic suspicion guiding the optimal diagnostic tests that should be requested in each case scenario.