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Updated: Apr 15, 2026
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Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior
Sorina M Papuc1, Karl Hackmann2, Joris Andrieux3
1Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania.
Abstract:
We report on the clinical data and molecular cytogenetic findings in three unrelated patients presenting with intellectual disability and behavior abnormalities. An overlapping microduplication involving 3p26.2-26.3 was identified in these patients. All three aberrations were confirmed and proven to be parentally inherited. The sizes of the duplications were different, with a common minimal region of 423,754 bp containing two genes - TRNT1 and CRBN. Here, we hypothesize that the copy number gain of CRBN gene might be responsible for developmental delay/intellectual disability.
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