Wiedemann-Rautenstrauch syndrome: A phenotype analysis

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art_PAOLACCI_WiedemannRautenstrauch_syndrome_A_phenotype_analysis_2017.PDF (454.79 KB)
Citações na Scopus
31
Tipo de produção
article
Data de publicação
2017
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
PAOLACCI, Stefano
MOHAMMED, Shehla
TARTAGLIA, Marco
WOLLNIK, Bernd
HENNEKAM, Raoul C.
Citação
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.173, n.7, p.1763-1772, 2017
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as ""gold standard."" In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. Core manifestations of the syndrome are marked pre-natal and severe post-natal growth retardation, an unusual face (triangular shape, sparse hair, small mouth, pointed chin), dental anomalies (natal teeth; hypodontia), generalized lipodystrophy with localized fat masses, and-in some cases-progressive ataxia and tremor. It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only. Therefore, we compared the WRS phenotype with characteristics of conditions known to be caused by autosomal recessively inherited POLR3A mutations. There are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning.
Palavras-chave
4H syndrome, autosomal recessive, cerebellar hypoplasia-endosteal sclerosis, lipodystrophy, POLR3A, POLR3B, Wiedemann-Rautenstrauch syndrome
URI
https://observatorio.fm.usp.br/handle/OPI/22108
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/36