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Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion

2025-05-28Artigo científico Acesso restrito
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datacite.subject.fosCiências Médicas::Ciências da Saúde
dc.contributor.authorGomes, Inês Furtado
dc.contributor.authorMartins, Marta
dc.contributor.authorMarques, Bárbara
dc.contributor.authorCorreia, Hildeberto
dc.contributor.authorSanches, Bruno
dc.contributor.editorWalters Kluwer
dc.date.accessioned2026-01-21T11:14:17Z
dc.date.available2026-01-21T11:14:17Z
dc.date.issued2025-05-28
dc.description.abstractIntroduction: X-linked intellectual disability (XLID) type Nascimento is a rare genetic syndrome characterized by intellectual disability, craniofacial dysmorphisms, and congenital anomalies, including cardiac and urinary tract defects. It is caused by variants of the UBE2A gene. Methods: Description of a clinical case based on medical records; genetic testing through chromosomal microarray analysis. Literature review of relevant scientific articles concerning XLID type Nascimento and UBE2A/ UBE2A . Results: We describe the clinical and genetic characteristics of a neonate with a challenging presentation and fatal outcome with a 386 kb deletion in the Xq24 region encompassing UBE2A . Despite clinical and anatomopathological investigations, the definitive cause of death was not established. Study of the proband's asymptomatic mother confirmed maternal inheritance of the deletion. A total of 58 other cases have been described worldwide, with only one with a neonatal diagnosis; prevalent clinical characteristics matched the phenotype of our patient. Conclusion: Further research is needed to refine the clinical spectrum and elucidate genotype-phenotype correlations. Early clinical recognition might be possible and would allow for the timely diagnosis and genetic counseling of affected families. The present case is the first report of sudden infant death in a patient with UBE2A deficiency, underscoring the importance of clinician awareness for proactive management.eng
dc.identifier.citationClin Dysmorphol. 2025 Jul 1;34(3):63-67. doi: 10.1097/MCD.0000000000000526. Epub 2025 May 28
dc.identifier.doi10.1097/MCD.0000000000000526
dc.identifier.eissn1473-5717
dc.identifier.issn0962-8827
dc.identifier.pmid40156274
dc.identifier.urihttp://hdl.handle.net/10400.18/10731
dc.language.isoeng
dc.peerreviewedyes
dc.publisherLippincott, Williams & Wilkins
dc.relation.hasversionhttps://journals.lww.com/clindysmorphol/abstract/2025/07000/sudden_infant_death_in_a_neonate_with_x_linked.1.aspx
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectX-Linked Syndrome
dc.subjectCardiac Defects
dc.subjectCongenital Anomalies
dc.subjectIntellectual Disability
dc.subjectNeonatal Syndrome
dc.subjectDoenças Genética
dc.titleSudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletioneng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage67
oaire.citation.issue3
oaire.citation.startPage63
oaire.citation.titleClinical Dysmorphology
oaire.citation.volume34
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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