Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

Mario Mastrangelo; Barbara Torres; Gloria De Vita; Marina Goldoni; Agnese De Giorgi; Laura Bernardini; Vincenzo Leuzzi

doi:10.1055/s-0040-1715479

Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

J Pediatr Genet. 2020 Aug 20;11(1):68-73. doi: 10.1055/s-0040-1715479. eCollection 2022 Mar.

Authors

Mario Mastrangelo¹, Barbara Torres², Gloria De Vita¹, Marina Goldoni², Agnese De Giorgi¹, Laura Bernardini², Vincenzo Leuzzi¹

Affiliations

¹ Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
² Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy.

Abstract

Reported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of neurological and neurodevelopmental abnormalities in the clinical phenotype highlights a possible pathogenic role for different genes in the involved regions. Hypothetical mechanisms may include a possible gene dosage effect for DOCK1 and/or haploinsufficiency of PRKAR1B SUN1, ADAP1 , and GPER1 .

Keywords: 10q duplication syndrome; autism spectrum disorder; epilepsy; intellectual disability.

Publication types

Case Reports

Grants and funding

Funding None.