Identification of a Deletion by Using A-CGH Involving PLNAX2: An Interesting Candidate Gene in Psychomotor Developmental Delay.

Psychomotor developmental delay is a disorder with a prevalence of 12-18% in the pediatric population, characterized by the non-acquisition of motor, cognitive and communication skills during the child's development, in relation to chronological age. An appropriate neuropsychomotor evaluation and the use of new technologies, such as Array Comparative Genomic Hybridization (a-CGH) and Next-generation sequencing (NGS), can contribute to early diagnosis and improving the quality of life. In this case, we have analyzed a boy aged 2 years and 8 months, with a diagnosis of psychomotor developmental delay, mainly in the area of communication and language. The a-CGH analysis identified three deletions of uncertain clinical significance, involving (1q32.2), , and (5q32), (6q13), and a heterozygous duplication of maternal origin involved three genes: and (17q24.2). Among all these alterations, our attention focused on the gene because of the central function that plexin 2 carries out in the development of the central nervous system. However, all genes detected in the analysis could contribute to the phenotypic characteristics of the patient.