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Sustainable Development Goals
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A NOVEL PACS1 VARIANT ASSOCIATED WITH SCHUURS HOEIJMAKERS SYNDROME PHENOTYPE IN AN INDIGENOUS DESCENDANT IN BRAZIL: A CASE REPORT
Pacs1
Atraso no neurodesenvolvimento
Transtorno do Espectro Autista (TEA),
Deficiência intelectual (id)
Pacs1
Neurodevelopmental delay
Autism spectrum disorder (asd)
Intellectual disability (id)
Author
Affilliation
Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil.
Instituto D’Or para Pesquisa e Educação. Centro de Biotecnologia e Terapia Celular. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.
Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil.
Department of Psychiatry and Behavioral Sciences. Stanford University. Stanford, USA.
Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil.
Universidade Federal da Bahia. Departamento de Neurociências e Saúde Mental. Salvador, BA, Brasil.
Instituto D’Or para Pesquisa e Educação. Centro de Biotecnologia e Terapia Celular. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.
Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil.
Department of Psychiatry and Behavioral Sciences. Stanford University. Stanford, USA.
Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil.
Universidade Federal da Bahia. Departamento de Neurociências e Saúde Mental. Salvador, BA, Brasil.
Abstract
chuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilaginous structures, inducing craniofacial alterations predominantly in a dominant-negative fashion. In this paper, we report a novel variant of PACS1 associated with Schuurs-Hoeijmakers syndrome: a boy aged two years and nine months of indigenous descent presenting with motor stereotypies, atypical sensory searches, language delay, and low socio-interactional reciprocity. Whole exome sequencing confirmed the presence of a heterozygous missense mutation c.943C>T p. (Arg315Trp) in the PACS1 gene. The phenotypic profile identified was similar to the other cases of Schuurs-Hoeijmakers syndrome described in the literature. This report highlights the importance of considering the possibility of PACS1 gene alterations and a diagnosis of Schuurs-Hoeijmakers syndrome in patients presenting craniofacial alterations associated with autistic features, psychomotor and language development delay.
Keywords in Portuguese
Síndrome de schuur-hoeijmakersPacs1
Atraso no neurodesenvolvimento
Transtorno do Espectro Autista (TEA),
Deficiência intelectual (id)
Keywords
Schuur-hoeijmakers’ syndromePacs1
Neurodevelopmental delay
Autism spectrum disorder (asd)
Intellectual disability (id)
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