High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight

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Freire, Bruna Lucheze ; Homma, Thais Kataoka ; Lerario, Antonio Marcondes ; Seo, Go Hun ; Han, Heonjong ; de Assis Funari, Mariana Ferreira ; Gomes, Nathalia Lisboa ; Rosemberg, Carla ; Victorino Krepischi, Ana Cristina ; Vasques, Gabriela de Andrade ; Malaquias, Alexsandra Christianne ; de Lima Jorge, Alexander Augusto

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 188, n. 9, p. 6-pg., 2022-07-06.

Resumo

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. (AU)

• Processo FAPESP: 18/10893-6 - Avaliação prospectiva do uso do sequenciamento exômico na investigação etiológica de pacientes sindrômicos com baixa estatura sem diagnóstico clínico
• Beneficiário: Bruna Lucheze Freire
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
• Beneficiário: Alexander Augusto de Lima Jorge
• Modalidade de apoio: Auxílio à Pesquisa - Temático