P332: Two independent molecular diagnoses of Loeys-Dietz syndrome in a sibship and their children: A case report
Year: 2024
Type: article
Study design: Case Report
Abstract: Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm/dissection to a severe syndromic presentation with multisystemic involvement. Significant clinical variability has been noted for both related and unrelated individuals with the same pathogenic variant. Here, we report a family of five affected individuals who appear to have two distinct molecular causes of LDS, one attributable to a missense variant in TGFBR2 and the other a non-canonical splice site variant in TGFB2.
Source: Genetics in Medicine Open
Authors: Tanner Coleman, Jada Pugh, Emily Gordon, Stephanie Felker, Anna Hurst, Nadiya Sosonkina, Meagan Cochran, Sara Cooper
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588802