title: Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.
abstract: Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064). Subsequently, the MLPA P343 was used to identify alterations in the 15q11q13, 16p11.2, and 22q13 regions. Screening with MLPA P343 allowed a 10-15.7% increase in the detection rate of CNVs reinforcing the importance of investigating changes in 15q11q13 and 16p11.2 in syndromic patients with seizures. We also demonstrated that the MLPA technique is an alternative with a great diagnostic potential, and we proposed its use as part of the initial assessment of syndromic patients with seizures.
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Gabrielle S
authors.initials: GS
authors.lastname: Vianna
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Mariana L
authors.initials: ML
authors.lastname: Freitas
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Valdirene T de
authors.initials: VT
authors.lastname: Oliveira
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Rafaella X
authors.initials: RX
authors.lastname: Pietra
authors.affiliation: Setor de Pesquisa & Desenvolvimento (P&D) do Instituto Hermes Pardini, Vespasiano, Campina Grande, Brazil.
authors.forename: Michele da S
authors.initials: MD
authors.lastname: Gonçalves
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Patrícia P O
authors.initials: PP
authors.lastname: Rocha
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Rejane A C
authors.initials: RA
authors.lastname: Monteiro
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Luana C A
authors.initials: LC
authors.lastname: Ferreira
authors.affiliation: Escola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
authors.forename: Rosana R
authors.initials: RR
authors.lastname: Xavier
authors.affiliation: Escola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
authors.forename: Andréia M
authors.initials: AM
authors.lastname: Carvalho
authors.affiliation: Escola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
authors.forename: Patrícia R de M
authors.initials: PR
authors.lastname: Lima
authors.affiliation: Escola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
authors.forename: Maria Augusta N P
authors.initials: MA
authors.lastname: Monteiro
authors.affiliation: Setor de Pesquisa & Desenvolvimento (P&D) do Instituto Hermes Pardini, Vespasiano, Campina Grande, Brazil.
authors.forename: Elvis C
authors.initials: EC
authors.lastname: Mateo
authors.affiliation: Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Campina Grande, Brazil.
authors.forename: Juliana G
authors.initials: JG
authors.lastname: Giannetti
authors.affiliation: CTI Pediátrico, Hospital Santa Casa, Belo Horizonte, Brazil.
authors.forename: Giovana da C
authors.initials: GD
authors.lastname: César
authors.affiliation: Hospital Infantil João Paulo II, Belo Horizonte, Brazil.
authors.forename: Joziele de S
authors.initials: JS
authors.lastname: Lima
authors.affiliation: Universidade Federal de Campina Grande, Campina Grande, Brazil.
authors.forename: Paula F V
authors.initials: PF
authors.lastname: Medeiros
authors.affiliation: Laboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
authors.forename: Fernanda S
authors.initials: FS
authors.lastname: Jehee
keywords: Congenital malformations; Developmental delay; Intellectual disability; MLPA; Seizures; Submicroscopic chromosomal changes