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

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.

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

“…According to the current literature, rare variants have been reported in few studies, significantly associated with SLD; a translocation breakpoint at 15q21 in the CCPG1 (previously called DYX1C1 ) gene was reported as the first gene to be implicated in dyslexia [ 51 ], further to other large deletions/insertions at chromosome 15 that were found [ 52 ]. A rare variant was reported at the ATPase secretory pathway Ca2+ transporting 2 ( ATP2C2 ) gene [ 53 ] or sprouty RTK signaling antagonist 1 ( SPRY1 ) gene [ 54 ], and a 452.4 Kb de novo heterozygous micro-deletion in chromosomal region 1p34.3 in a patient with dyslexia and attention-deficit/hyperactivity disorder was reported [ 55 ]. Several studies, indeed, have tried to investigate the possible cause of SLD; however, no agreement regarding the exact causes and nature of SLD has so far been found among the scientific communities [ 25 ].…”