Dominica Zentner

Jun 16, 2024 | mja.com.au | Dominica Zentner |Vithoosharan Sivanathan |Jennifer Philip |Natasha Smallwood

Med J Aust 2024; 220 (11): 546-549.

Mar 25, 2024 | nature.com | Anne Hebert |Arjan C. Houweling |Minna Kraatari-Tiri |Alan Lu |Stephen Oakley |Nicole Revencu | +5 more

AbstractPathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females).