Autism and duplication of 17q12q21.2 by array-CGH: a case report

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dc.contributor.authorWeingartner A.
dc.contributor.authorPegoraro N.B.
dc.contributor.authorMaglioni R.T.
dc.contributor.authorMoreira I.C.F.N.
dc.contributor.authorRodrigues G.E.
dc.contributor.authorKunz A.C.
dc.contributor.authorPiai C.B.
dc.contributor.authorMilano A.S.
dc.contributor.authorRaskin S.
dc.contributor.authorFerrari L.P.
dc.contributor.authorMikami L.R.
dc.date.accessioned2024-09-01T06:34:54Z
dc.date.available2024-09-01T06:34:54Z
dc.date.issued2023
dc.description.abstractOBJECTIVE: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2. CASE DESCRIPTION: A male baby was born at 37 weeks' gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD. COMMENTS: Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.
dc.description.firstpagee2021387
dc.description.volume41
dc.identifier.doi10.1590/1984-0462/2023/41/2021387
dc.identifier.issnNone
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/39307
dc.relation.ispartofRevista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
dc.rightsAcesso Aberto
dc.titleAutism and duplication of 17q12q21.2 by array-CGH: a case report
dc.typeArtigo
local.scopus.citations2
local.scopus.eid2-s2.0-85146855272
local.scopus.subjectAutism Spectrum Disorder
local.scopus.subjectAutistic Disorder
local.scopus.subjectCesarean Section
local.scopus.subjectChild
local.scopus.subjectChild, Preschool
local.scopus.subjectComparative Genomic Hybridization
local.scopus.subjectDNA Copy Number Variations
local.scopus.subjectFemale
local.scopus.subjectHumans
local.scopus.subjectInfant
local.scopus.subjectMale
local.scopus.subjectPregnancy
local.scopus.updated2024-10-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85146855272&origin=inward
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