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

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art_FREIRE_High_frequency_of_geneticepigenetic_disorders_in_short_stature_2022.PDF (1.03 MB)
Citações na Scopus
5
Tipo de produção
article
Data de publicação
2022
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
HOMMA, Thais Kataoka
LERARIO, Antonio Marcondes
SEO, Go Hun
HAN, Heonjong
GOMES, Nathalia Lisboa
ROSEMBERG, Carla
KREPISCHI, Ana Cristina Victorino
Citação
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.188, n.9, p.2599-2604, 2022
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
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.
Palavras-chave
genetics, next-generation sequencing, short stature, very low birth weight
URI
https://observatorio.fm.usp.br/handle/OPI/50429
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/42