KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.

Abstract

BACKGROUND:

Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features.

CASE PRESENTATION:

In this study, we describe a young Caucasian boy with mild intellectual disability, cerebellar anomalies (cerebellar hypoplasia and mega cisterna magna) and minor dysmorphic features associated to a novel KIRREL3 variant.

CONCLUSIONS:

Aim of the present case report is to expand the clinical spectrum of KIRREL3-related diseases towards a milder phenotype than what is already described in the literature. We speculate that the interaction between KIRREL3 and CASK might play a major role in promoting cognitive and cerebellar development, contributing to a variety of clinical manifestations.

• Authors: Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadelli
• Journal: Italian journal of pediatrics (Ital J Pediatr) Vol. 49 Issue 1 Pg. 99 (Aug 21 2023) ISSN: 1824-7288 [Electronic] England
• PMID: 37605258 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2023. Società Italiana di Pediatria.

Topics

• Humans
• Autism Spectrum Disorder
• Intellectual Disability (diagnosis, genetics)
• Radiography
• Phenotype