Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion

Ornella Galesi; Francesco Domenico Di Blasi; Lucia Grillo; Flaviana Elia; Maria Concetta Giambirtone; Maria Grazia Figura; Biagio Rizzo; Serafino Buono; Corrado Romano

doi:10.3390/genes13111926

Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion

Genes (Basel). 2022 Oct 23;13(11):1926. doi: 10.3390/genes13111926.

Authors

Ornella Galesi¹, Francesco Domenico Di Blasi², Lucia Grillo¹, Flaviana Elia², Maria Concetta Giambirtone¹, Maria Grazia Figura³, Biagio Rizzo⁴, Serafino Buono², Corrado Romano^{5

6}

Affiliations

¹ Laboratory of Medical Genetics, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
² Unit of Psychology, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
³ Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
⁴ Unit of Otorhinolaryngology, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
⁵ Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
⁶ Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 95123 Catania, Italy.

Abstract

The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association.

Keywords: 1p34.3 microdeletion; AGO1 gene; KIAA0319L gene; attention deficit hyperactivity disorder; dyslexia.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Attention Deficit Disorder with Hyperactivity* / diagnosis
Attention Deficit Disorder with Hyperactivity* / genetics
Dyslexia* / diagnosis
Dyslexia* / genetics
Heterozygote
Humans
Phenotype

Grants and funding

This study has been carried out with the contribution of the Italian Ministry of Health—Ricerca Corrente 2022.