Pathogenic variants of the GATAD2B gene (1q21.3) are linked to intellectual disability autosomal dominant type 18 (MRD18; MIM 615074), characterized by dysmorphic features, psychomotor and language delay. We present an 11-year-old female patient with intellectual disability and typical clinical characteristics of MRD18. Chromosomal microarray analysis (CMA) revealed a novel CNV, approximately 200 kb in size and showed that the INTS3 and SLC27A3 genes are completely deleted along with the first 10 exons of the GATAD2B gene. INTS3 encodes the integrator complex subunit 3 and is part of the complex that maintains genome stability; SLC27A3 encodes a fatty acid transporter and has been associated with autism spectrum disorder. GATAD2B haploinsufficiency is associated with the phenotype. Furthermore, the girl had other clinical characteristics not previously described, such as emotional instability, calf hypotrophy, hypoplastic digit pads, tapered thumbs, and anterior earlobe crease. This study highlights the importance of the phenotype-genotype correlation using molecular diagnostic techniques, such as CMA, and its impact on precise diagnosis, treatment, prognosis, and genetic counseling for patients and their families.
- Chromosomal microarray analysis
- Copy number variation
- Intellectual disability