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Review
. 2003 May 5;121(3):133-8.
doi: 10.1590/s1516-31802003000300010. Epub 2003 Aug 8.

Beckwith-Wiedemann syndrome and isolated hemihyperplasia

Marcus Vinícius de Matos Gomes  1 , Ester Silveira Ramos
Affiliations
Review

Beckwith-Wiedemann syndrome and isolated hemihyperplasia

Marcus Vinícius de Matos Gomes et al. Sao Paulo Med J. .

Abstract
in English, Portuguese

Context: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome.

Objectives: A clinical and molecular review and proposal of the use of an experimental protocol to provide a practical approach for the physician.

Data synthesis: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders. The results have been used at the Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, to elucidate the basis of Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and have been applied at the Hospital Universitário of the Faculdade de Medicina.

Conclusions: Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families.

CONTEXTO:: A síndrome de Beckwith-Wiedemann é uma doença de hipercrescimento complexa e heterogênea com alterações genéticas e epigenéticas, envolvendo imprinting genômico e predisposição ao câncer. A causa da hemi-hiperplasia isolada ainda é desconhecida e pode representar uma expressão parcial ou incompleta da síndrome de Beckwith-Wiedemann.

OBJETIVOS:: Revisão clínica e molecular e proposta de um protocolo experimental para utilização na prática médica.

SÍNTESE DOS DADOS:: Esta revisão apresenta os mecanismos genéticos e epigenéticos envolvidos na síndrome de Beckwith-Wiedemann e na hemi-hiperplasia isolada, os genes candidatos e o primeiro protocolo brasileiro, de que temos conhecimento, para a pesquisa dessas doenças. Os resultados têm sido utilizados na Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo para elucidar as bases da síndrome de Beckwith-Wiedemann/hemi-hiperplasia isolada e aplicados no Hospital das Clínicas desta Faculdade.

CONCLUSÕES:: A elucidação dos mecanismos etiológicos e o uso de um protocolo laboratorial para se detectar as alterações nessas doenças pode ser proveitoso no acompanhamento clínico dos pacientes e no aconselhamento genético das famílias.

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Conflict of interest statement

Conflicts of interest: Not declared

Figures

Figure 1
Figure 1. Common phenotypes associated with Beckwith-Wiedemann syndrome: A) macroglossia and facial/tongue hemihyperplasia, B) ear lobe creases, C) pit on posterior helix.
Figure 2
Figure 2. Telomeric and centromeric domains involved in Beckwith-Wiedemann syndrome. Expressed genes are indicated by open boxes, and silenced genes by closed ones. The arrows indicate the transcriptional orientation.
Figure 3
Figure 3. Protocol for Beckwith-Wiedemann syndrome analysis.
See this image and copyright information in PMC

References

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