Dados do Trabalho

Título

WILLIAMS-BEUREN REGION DUPLICATION SYNDROME: CASE REPORT

Apresentação do caso

Patient, 14 years old, with prenatal diagnosis of pulmonary valve stenosis, submitted to pulmonary valvuloplasty after birth. She presented delayed cervical support, sitting, talking, and walking. She has difficulty keeping up with her class at school, does not know how to handle money, does not know how to look at the time on the clock, and does not leave the house alone. No parental consanguinity.
On examination, normal hair implantation, broad forehead, small nose, prominent lips. Quite smiling, inattentive to the surroundings, bradykinetic and bradypsychic, performs simple commands, reads single words, cannot read a complete text.
Referred to the genetics outpatient clinic and fluorescence in situ hybridization (FISH) was performed with the presence of microduplication 7q11.23.

Discussão

Microduplications are duplications too small to be detected by light microscopy using conventional cytogenetic methods. The phenotype of microduplication syndromes is usually less clear and less well defined than for the corresponding microdeletion syndrome.
The specific genes on 7q11.23 are extremely sensitive to dosage changes that originate from deletions or duplications and that can influence the development of human language and visuospatial ability.
The microdeletion present in Williams-Beuren syndrome (WBS) is evaluated using the FISH technique, which detects the hemizygosis of the elastin gene from blood analysis. It has a pattern of autosomal dominant inheritance, but most cases occur only in a single family member, being of de novo origin with a low risk of familial recurrence.
Isolated supravalvular aortic stenosis is associated with intragenic mutations of the elastin gene, while WBS involves deletions of the elastin gene in its entirety; this suggests that supravalvular aortic stenosis, may be caused by quantitative or qualitative defects of the elastin gene. WBS is a rare neurodevelopmental disorder that affects connective tissue and the central nervous system. It presents with typical facial dysmorphisms, congenital heart defects, growth deficits, and intellectual disability. It exhibits dissociation between verbal and nonverbal cognitive domains, with fluent speech and elevated empathetic and sociable behaviors standing out.

Comentários finais

The phenotype of patients with WBS who have a duplication or deletion is quite variable and diagnosis is difficult during childhood, as this is a disease of progressive manifestation and features may not be present early in life.

Referências (se houver)

Morris, Colleen A., et al. "7q11. 23 Duplication syndrome: Physical characteristics and natural history." American journal of medical genetics Part A 167.12 (2015): 2916-2935.

Mervis, Carolyn B., et al. "7q11. 23 Duplication Syndrome." (2021).

Velleman, Shelley L., and Carolyn B. Mervis. "Children with 7q11. 23 duplication syndrome: speech, language, cognitive, and behavioral characteristics and their implications for intervention." Perspectives on language learning and education 18.3 (2011): 108-116.

Souza, Deise Helena. "Cytogenetic study of the 7q11.23 region: the Williams-Beuren syndrome." (2003): 137-f.

Ruiz Botero, Felipe, Saldarriaga Gil, Wilmar, & Isaza de Lourido, Carolina. (2016). 7q11.23 duplication syndrome: First case described in Latin America. Argentinian Pediatric Archives, 114(1), e1-e4.

Palavras Chave

Williams-Beuren Syndrome
microduplication syndromes

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

There is no conflicts of interest

Área

Neurogenética