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

Italian Journal of Pediatrics

Case Report

Fabio Sirchia¹  Luisa Chiapparini²  Salvatore Savasta³  Thomas Foiadelli⁴  Andrea Querzani⁴  Gian Luigi Marseglia⁴  Alessandra Rossi⁴  Gianluca Rustioni⁴  Alessandro Orsini⁵ 

[1] Department of Molecular Medicine, University of Pavia, 27100, Pavia, Italy;Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy;Department of Neuroradiology, Fondazione IRCCS Policlinico San Matteo, Pavia, PV, Italy;Pediatric Clinic and Rare Diseases, P.O. Pediatrico Microcitemico “A. Cao”, Università degli Studi di Cagliari, Cagliari, CA, Italy;Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, PV, Italy;Pediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, 56126, Pisa, Italy;

关键词: KIRREL3;    Neurodevelopmental disorders;    Cerebellar hypoplasia;    CASK;    Case report;   

DOI  :  10.1186/s13052-023-01488-7

 received in 2023-05-02, accepted in 2023-06-27,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundNeurodevelopmental 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 presentationIn 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.ConclusionsAim 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.

【 授权许可】

CC BY   
© Società Italiana di Pediatria 2023

【 图 表 】

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