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High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Freire, Bruna Lucheze; Homma, Thais Kataoka; Lerario, Antônio Marcondes; Seo, Go Hun; Han, Heonjong; de Assis Funari, Mariana Ferreira; Gomes, Nathalia Lisboa; Rosemberg, Carla; Krepischi, Ana Cristina Victorino; de Andrade Vasques, Gabriela; Malaquias, Alexsandra Christianne; de Lima Jorge, Alexander Augusto.
Afiliação
  • Freire BL; Unidade de Endocrinologia Genética (LIM25), Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Consolacao, Brazil.
  • Homma TK; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Consolacao, Brazil.
  • Lerario AM; Unidade de Endocrinologia Genética (LIM25), Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Consolacao, Brazil.
  • Seo GH; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Consolacao, Brazil.
  • Han H; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan, USA.
  • de Assis Funari MF; Division of Medical Genetics, 3billion Inc., Seoul, South Korea.
  • Gomes NL; Division of Medical Genetics, 3billion Inc., Seoul, South Korea.
  • Rosemberg C; Unidade de Endocrinologia Genética (LIM25), Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Consolacao, Brazil.
  • Krepischi ACV; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Consolacao, Brazil.
  • de Andrade Vasques G; Unidade de Endocrinologia, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brazil.
  • Malaquias AC; Department of Genetics & Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, Consolacao, Brazil.
  • de Lima Jorge AA; Department of Genetics & Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, Consolacao, Brazil.
Am J Med Genet A ; 188(9): 2599-2604, 2022 09.
Article em En | MEDLINE | ID: mdl-35792504
Most infants born with very low birth weight (VLBW, birth weight < 1500 g) show spontaneous catch-up growth in postnatal life. The reasons for the absence of catch-up growth are not entirely understood. We performed a comprehensive investigation of 52 children born with VLBW. Ten children had a history of an external cause that explained the VLBW and five refused genetic evaluation. Twenty-three cases were initially evaluated by a candidate gene approach. Patients with a negative result in the candidate gene approach (n = 14) or without clinical suspicion (n = 14) were assessed by chromosome microarray analysis (CMA) and/or whole-exome sequencing (WES). A genetic condition was identified in 19 of 37 (51.4%) patients without an external cause, nine by candidate gene approach, and 10 by a genomic approach (CMA/WES). Silver-Russell syndrome was the most frequent diagnosis (n = 5) and the remaining patients were diagnosed with other rare monogenic conditions. Almost all patients with a positive genetic diagnosis exhibited syndromic features (94.4%). However, microcephaly, neurodevelopmental disorders, major malformation, or facial dysmorphism were also frequently observed in children with an external cause. In conclusion, a significant proportion of children born with VLBW with persistent short stature have a genetic/epigenetic condition.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Infant / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Infant / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos