Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

Autor:	Lakatosova S; Genetics, Institute of Physiology, Academic Center for Autism Research, Faculty of Medicine, Comenius University in Bratislava, Bratislava, SVK., Repiska G; Genetics, Institute of Physiology, Academic Center for Autism Research, Faculty of Medicine, Comenius University in Bratislava, Bratislava, SVK., Valachova A; Medical Genetics, Faculty Hospital Trenčín, Trenčín, SVK., Raskova B; Psychology, Institute of Physiology, Academic Center for Autism Research, Faculty of Medicine, Comenius University in Bratislava, Bratislava, SVK., Belica I; Psychology, Institute of Physiology, Academic Center for Autism Research, Faculty of Medicine, Comenius University in Bratislava, Bratislava, SVK., Patrovic L; Radiology, Jessenius Diagnostic Center, Nitra, SVK., Ostatnikova D; Psychology, Institute of Physiology, Academic Center for Autism Research, Faculty of Medicine, Comenius University in Bratislava, Bratislava, SVK., Konecny M; Laboratory of Genomic Medicine, GHC Genetics SK Ltd. Science Park, Comenius University in Bratislava, Bratislava, SVK.; Biology, Institute of Biology and Biotechnology, Faculty of Natural Sciences, University of St. Cyril and Methodius in Trnava, Bratislava, SVK.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Nov 25; Vol. 16 (11), pp. e74379. Date of Electronic Publication: 2024 Nov 25 (Print Publication: 2024).
DOI:	10.7759/cureus.74379
Abstrakt:	In this article, we present a case study of a five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The girl was diagnosed using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) instruments and met the criteria for autism spectrum disorder. Intellectual functioning was in the markedly below-average range, as indicated by the Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, and her level of adaptive functioning was significantly reduced. Neurological signs included atypical leukoencephalopathy, hypotonia, sensorineural hearing loss, and sleep disturbances. The patient underwent genetic testing, including microarray-based copy number variation (CNV) detection, which yielded negative results. However, whole exome sequencing (WES) analysis pointed out a damaging homozygous variant in the EIF3F (Eukaryotic Translation Initiation Factor 3 Subunit F) gene, confirming the diagnosis of intellectual developmental disorder autosomal recessive 67. Segregation analysis in the family revealed that the asymptomatic parents were carriers of the pathogenic variant in EIF3F. Our study contributes to the phenotypic profiling of this rare syndromic neurodevelopmental disorder and points out the irreplaceability of WES analysis in genetic diagnostics of autism and developmental delay. This appeals to the need for WES to be accepted as a routine diagnostic tool in Slovakia. Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Ethics Committee of the Faculty of Medicine, Comenius University in Bratislava and Bratislava University Hospital issued approval 75/2021. The study adhered to the ethical standards set forth in the 1964 Declaration of Helsinki. The mother of the child, who is a subject of this case study, provided informed consent to participate in the research. This case study was part of an autism research project approved by the Ethics Committee of the Faculty of Medicine, Comenius University in Bratislava and Bratislava University Hospital, under approval number 75/2021. Written informed consent for the publication of the patient's clinical details and images was also obtained from the patient's mother. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: This work was supported by the APVV-20-0070 and VEGA 1/0468/24 grants. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Lakatosova et al.)
Databáze:	MEDLINE
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