Targeted gene under study:
Copy number variants (CNVs), are a significant cause of neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorder (ASD). We have collected a cohort of six individuals with speech delay, severe ID, and behavioural issues who were found to carry a de novo 9q34.11 microduplications with a minimal overlapping region encompassing the SET and ZER1 genes with most also involving SPTAN1.
Abstract
We collected a cohort of six individuals with speech delay, severe ID, and behavioural issues who were found to carry a de novo 9q34.11 microduplications with a minimal overlapping region (chr9: 128679215-128770807) encompassing the SET and ZER1 genes with most also involving SPTAN1. Notably, pathogenic variants in SET and SPTAN1 gene have been implicated in neurodevelopmental disorders, such as ID and developmental delay. Besides the neurodevelopmental disorder, clinical features observed among affected individuals included mild recurrent dysmorphic features (e.g., midface hypoplasia). The reciprocal 9q34.11 microdeletion encompassing STXBP1, SPTAN1, ENG, and TOR1A genes, has been already known. We think 9q34.11 microduplication is a novel CNV syndrome with mild to severe neurodevelopmental disorder and dysmorphic features.
We would like to collect additional cases and more photos of the patients to refine the genotype-phenotype correlation of this novel microduplication syndrome.
Coordinating clinician
Alessandro De Falco – a.defalco@tigem.it
Nicola Brunetti-Pierri
Institution
Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No