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Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko, Olga; Dadali, Elena; Bessonova, Ludmila; Demina, Nina; Rudenskaya, Galina; Matyushchenko, Galina; Markova, Tatiana; Anisimova, Inga; Semenova, Natalia; Shchagina, Olga; Ryzhkova, Oxana; Zinchenko, Rena; Galkina, Varvara; Voinova, Victoria; Nagieva, Sabina; Lavrov, Alexander.
Afiliación
  • Levchenko O; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Bessonova L; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Demina N; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Rudenskaya G; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Matyushchenko G; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Markova T; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Anisimova I; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Semenova N; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Shchagina O; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Ryzhkova O; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Zinchenko R; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Galkina V; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, 125412 Moscow, Russia.
  • Nagieva S; Mental Health Research Center, 115522 Moscow, Russia.
  • Lavrov A; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Int J Mol Sci ; 23(14)2022 Jul 14.
Article en En | MEDLINE | ID: mdl-35887114
Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics. We examined 198 patients with non-specific IDD from 171 families using whole-exome sequencing and chromosome microarray analysis. Hereditary forms of IDD account for at least 35.7% of non-specific IDD, of which 26.9% are monogenic forms. Variants in the genes associated with the BAF (SWI/SNF) complex were the most frequently identified. We were unable to identify phenotypic features that would allow differential diagnosis of monogenic and microstructural chromosomal rearrangements in non-specific IDD at the stage of clinical examination, but due to its higher efficiency, exome sequencing should be the diagnostic method of the highest priority study after the standard examination of patients with NIDD in Russia.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Int J Mol Sci Año: 2022 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Int J Mol Sci Año: 2022 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza