ArticleAmerican journal of medical genetics. Part A2017
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Occurrence of Emphysema in Individuals With Williams-Beuren Syndrome: A Narrative Review.CHEST pulmonary · 2025Article
- Emerging mechanisms of elastin transcriptional regulation.American journal of physiology. Cell physiology · 2022Review
- Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency.Diagnostics (Basel, Switzerland) · 2022Article
- Vanishing lung syndrome: a consequence of mixed tobacco and marijuana use.BMJ case reports · 2021Article
- The future is here: Integrating genetics into the pediatric pulmonary clinic.Pediatric pulmonology · 2020Review
- Elastin-driven genetic diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23. Emphysema, a disease attributed to destruction of pulmonary elastic fibers, has been reported in patients without WBS who have pathogenic variants in ELN but only once (in one patient) in WBS. Here we report a second adult WBS patient with emphysema where the diagnosis of WBS was established subsequent to the discovery of severe bullous emphysema. Haploinsufficiency of ELN likely contributed to this pulmonary manifestation of WBS. This case emphasizes the contribution of rare genetic variation in cases of severe emphysema and provides further evidence that emphysema should be considered in patients with WBS who have respiratory symptoms, as it may be under-recognized in this patient population.
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