High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
dc.contributor.author | Freire, Bruna Lucheze | |
dc.contributor.author | Homma, Thais Kataoka | |
dc.contributor.author | Lerario, Antônio Marcondes | |
dc.contributor.author | Seo, Go Hun | |
dc.contributor.author | Han, Heonjong | |
dc.contributor.author | Assis Funari, Mariana Ferreira | |
dc.contributor.author | Gomes, Nathalia Lisboa | |
dc.contributor.author | Rosemberg, Carla | |
dc.contributor.author | Krepischi, Ana Cristina Victorino | |
dc.contributor.author | Andrade Vasques, Gabriela | |
dc.contributor.author | Malaquias, Alexsandra Christianne | |
dc.contributor.author | Lima Jorge, Alexander Augusto | |
dc.date.accessioned | 2022-09-26T16:05:47Z | |
dc.date.available | 2023-10-26 12:05:45 | en |
dc.date.available | 2022-09-26T16:05:47Z | |
dc.date.issued | 2022-09 | |
dc.identifier.citation | Freire, Bruna Lucheze; Homma, Thais Kataoka; Lerario, Antônio Marcondes ; Seo, Go Hun; Han, Heonjong; Assis Funari, Mariana Ferreira; Gomes, Nathalia Lisboa; Rosemberg, Carla; Krepischi, Ana Cristina Victorino; Andrade Vasques, Gabriela; Malaquias, Alexsandra Christianne; Lima Jorge, Alexander Augusto (2022). "High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight." American Journal of Medical Genetics Part A 188(9): 2599-2604. | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.issn | 1552-4833 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/174852 | |
dc.description.abstract | 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. | |
dc.publisher | John Wiley & Sons, Inc. | |
dc.subject.other | genetics | |
dc.subject.other | very low birth weight | |
dc.subject.other | short stature | |
dc.subject.other | next‐generation sequencing | |
dc.title | High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Human Genetics | |
dc.subject.hlbsecondlevel | Genetics | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/174852/1/ajmga62892_am.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/174852/2/ajmga62892.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.62892 | |
dc.identifier.source | American Journal of Medical Genetics Part A | |
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dc.working.doi | NO | en |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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