Idioma:

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation

Kovalskaia, Valeriia A ; Kungurtseva, Anastasiia L ; Bostanova, Fatima M ; Vasiliev, Peter A ; Tabakov, Vyacheslav Y ; Orlova, Mariia D ; Povolotskaya, Inna S ; Novoselova, Olga G ; Bikanov, Roman A ; Akhyamova, Mariia A ; Tikhonovich, Yulia V ; Popovich, Anastasiia V ; Vitebskaya, Alisa V ; Dadali, Elena L ; Ryzhkova, Oxana P

Genes, 2024-01, Vol.15 (2), p.180 [Periódico revisado por pares]

Switzerland: MDPI AG

Texto completo disponível

Citações Citado por

Enviar para

Título:
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation
Autor: Kovalskaia, Valeriia A ; Kungurtseva, Anastasiia L ; Bostanova, Fatima M ; Vasiliev, Peter A ; Tabakov, Vyacheslav Y ; Orlova, Mariia D ; Povolotskaya, Inna S ; Novoselova, Olga G ; Bikanov, Roman A ; Akhyamova, Mariia A ; Tikhonovich, Yulia V ; Popovich, Anastasiia V ; Vitebskaya, Alisa V ; Dadali, Elena L ; Ryzhkova, Oxana P
Assuntos: Amino acids ; Ataxia ; Bioinformatics ; Biopsy ; Child ; Female ; Females ; Fetal Growth Retardation - pathology ; Fibroblasts ; Genetic aspects ; Genetic testing ; Genetics ; Genomics ; Growth rate ; Health aspects ; Humans ; Infant, Newborn ; Infants (Newborn) ; Lipodystrophy ; Molecular genetics ; Molecular modelling ; mRNA ; mRNA analysis ; Mutation ; neonatal progeroid syndrome ; Neonates ; Phenotypes ; POLR3A ; Progeria - diagnosis ; Progeria - genetics ; Progeria - pathology ; Reclassification ; RNA ; RNA polymerase ; RNA Polymerase III - genetics ; Russia ; WES ; Wiedemann–Rautenstrauch syndrome
É parte de: Genes, 2024-01, Vol.15 (2), p.180
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Report-1
Descrição: Bi-allelic pathogenic variations within have been associated with a spectrum of hereditary disorders. Among these, a less frequently observed condition is Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome. This syndrome typically manifests neonatally and is characterized by growth retardation, evident generalized lipodystrophy with distinctively localized fat accumulations, sparse scalp hair, and atypical facial features. Our objective was to elucidate the underlying molecular mechanisms of Wiedemann-Rautenstrauch syndrome (WRS). In this study, we present a clinical case of a 7-year-old female patient diagnosed with WRS. Utilizing whole-exome sequencing (WES), we identified a novel missense variant c.3677T>C (p.Leu1226Pro) in the gene (NM_007055.4) alongside two intronic variants c.1909+22G>A and c.3337-11T>C. Via the analysis of mRNA derived from fibroblasts, we reconfirmed the splicing-affecting nature of the c.3337-11T>C variant. Furthermore, our investigation led to the reclassification of the c.3677T>C (p.Leu1226Pro) variant as a likely pathogenic variant. Therefore, this is the first case demonstrating the molecular genetics of a patient with Wiedemann-Rautenstrauch syndrome from the Russian Federation. A limited number of clinical cases have been documented until this moment; therefore, broadening the linkage between phenotype and molecular changes in the gene will significantly contribute to the comprehensive understanding of the molecular basis of POLR3A-related disorders.
Editor: Switzerland: MDPI AG
Idioma: Inglês

Links

View this record in MEDLINE/PubMed

Voltar para lista de resultados

Anterior Resultado 2 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation

Switzerland: MDPI AG

Buscando em bases de dados remotas. Favor aguardar.