Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil

Acacia Fernandes Lacerda de Carvalho; Esmeralda Santos Alves; Paula Monique Leite Pitanga; Erlane Marques Ribeiro; Maria Juliana Rodovalho Doriqui; Maria Betânia Pereira Toralles; Bianca Arcaro Topázio; Jéssica Fernandes dos Santos; Renata Lúcia Leite Ferreira de Lima; Leslie Domenici Kulikowski; Angelina Xavier Acosta

doi:10.1055/s-0042-1757888

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2024; 13(02): 090-098
DOI: 10.1055/s-0042-1757888

Original Article

Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil

Acacia Fernandes Lacerda de Carvalho

¹Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil

,

Esmeralda Santos Alves

¹Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil

,

Paula Monique Leite Pitanga

¹Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil

,

Erlane Marques Ribeiro

²Faculty of Medicine Estacio of Juazeiro Norte, Estacio-FMJ, Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil

,

Maria Juliana Rodovalho Doriqui

³Association of Parents and Friends of Exceptional Children (APAE), São Luiz, Maranhão, Brazil

,

Maria Betânia Pereira Toralles

⁴Medical School of Medicine, Medical Genetic Service – Edgard Santos Teaching Hospital/Federal University of Bahia, Salvador, Bahia, Brazil

,

Bianca Arcaro Topázio

¹Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil

,

Jéssica Fernandes dos Santos

¹Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil

,

Renata Lúcia Leite Ferreira de Lima

¹Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University Bahia (UFBA), Salvador, Bahia, Brazil

,

Leslie Domenici Kulikowski

⁵Department of Pathology, Cytogenomics Laboratory – LIM 03, University of São Paulo, São Paulo, Brazil

,

Angelina Xavier Acosta

⁴Medical School of Medicine, Medical Genetic Service – Edgard Santos Teaching Hospital/Federal University of Bahia, Salvador, Bahia, Brazil

› Institutsangaben

Abstract

Intellectual disability (ID) is considered a common neuropsychiatric disorder that affects up to 3% of the population. The etiologic origin of ID may be genetic, environmental, and multifactorial. Chromosomopathies are relatively common among the genetic causes of ID, especially in the most severe cases and those associated with dysmorphic features. Currently, the application of new molecular cytogenetics technologies has increasingly allowed the identification of microdeletions, microduplications, and unbalanced translocations as causes of ID. The objective of this study was to investigate the etiology of ID in patients admitted to a public hospital in Northeastern Brazil. In total, 119 patients with ID who had normal karyotypes and fragile X exams participated in this study. The patients were initially physically examined for microdeletion syndromes and then tested using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), methylation-sensitive polymerase chain reaction (MS-PCR), and chromosome microarray analysis (CMA), according to clinical suspicion. Patients with no diagnoses after FISH, MLPA, and/or MS-PCR evaluations were subsequently tested by CMA. The rate of etiologic diagnoses of ID in the current study was 28%. FISH diagnosed 25 out of 79 tested (31%), MLPA diagnosed 26 out of 79 tested (32%), MS-PCR diagnosed 7 out of 20 tested (35%), and the single nucleotide polymorphism array diagnosed 6 out of 27 tested (22%). Although the CMA is the most complete and recommended tool for the diagnosis of microdeletions, microduplications, and unbalance translocations in patients with ID, FISH, MLPA, and MS-PCR testing can be used as the first tests for specific syndromes, as long as the patients are first physically screened clinically, especially in the public health networks system in Brazil, where resources are scarce.

Keywords

intellectual disability - dysmorphism - copy number variation - chromosome microarray analysis - FISH

Volltext

Referenzen

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