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

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2022; 11(01): 068-073
DOI: 10.1055/s-0040-1715479

Case Report

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

Mario Mastrangelo

¹Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy

,

Barbara Torres

²Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy

,

Gloria De Vita

¹Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy

,

Marina Goldoni

²Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy

,

Agnese De Giorgi

¹Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy

,

Laura Bernardini

²Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy

,

Vincenzo Leuzzi

¹Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy

› Institutsangaben

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 - intellectual disability - autism spectrum disorder - epilepsy

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Referenzen

References
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