Rothmund-Thomson syndrome, a disorder far from solved

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Citações na Scopus
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Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
FRONTIERS MEDIA SA
Autores
MARTINS, Davi Jardim
LAZZARO FILHO, Ricardo Di
HOCH, Nicolas Carlos
Citação
FRONTIERS IN AGING, v.4, article ID 1296409, 13p, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in the RECQL4 gene, which encodes a DNA helicase involved in DNA replication and repair, three additional genes have been recently identified in RTS: ANAPC1, encoding a subunit of the APC/C complex; DNA2, which encodes a nuclease/helicase involved in DNA repair; and CRIPT, encoding a poorly characterized protein implicated in excitatory synapse formation and splicing. Here, we review the clinical spectrum of RTS patients, analyze the genetic basis of the disease, and discuss molecular functions of the affected genes, drawing some novel genotype-phenotype correlations and proposing avenues for future studies into this enigmatic disorder.
Palavras-chave
Rothmund-Thomson syndrome, RECQL4, ANAPC1, DNA2, CRIPT, poikiloderma
URI
https://observatorio.fm.usp.br/handle/OPI/58253
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Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/36