Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.

Autor:	Sihombing NRB; Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia., Winarni TI; Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Faradz SM; Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Jazyk:	angličtina
Zdroj:	Intractable & rare diseases research [Intractable Rare Dis Res] 2023 May; Vol. 12 (2), pp. 104-113.
DOI:	10.5582/irdr.2023.01001
Abstrakt:	Intellectual disability (ID) and multiple congenital anomalies (MCA) are major contributors to infant mortality, childhood morbidity, and long-term disability, with multifactorial aetiology including genetics. We aim to set a diagnostic approach for genetic evaluation of patients with ID and MCA, which can be applied efficiently with a good diagnostic rate in Indonesia or other low resources settings. Out of 131 ID cases, twenty-three individuals with ID/global developmental delay (GDD) and MCA were selected from two-steps of dysmorphology screening and evaluation. Genetic analysis included chromosomal microarray (CMA) analysis, targeted panel gene sequencing, and exome sequencing (ES). CMA revealed conclusive results for seven individuals. Meanwhile, two out of four cases were diagnosed by targeted gene sequencing. Five out of seven individuals were diagnosed using ES testing. Based on the experience, a novel and comprehensive flowchart combining thorough physical and dysmorphology evaluation, followed by suitable genetic tests is proposed as a diagnostic approach to elucidate the genetic factor(s) of ID/GDD and MCA in low resources settings such as Indonesia. Competing Interests: The authors have no conflicts of interest to disclose. (2023, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.)
Databáze:	MEDLINE
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