Prepair 1000+

Gene: BGN

Green List (high evidence)

Additional publication - PMID: 38531898
This study highlights that aneurysms and dissections in MRLS extend beyond the thoracic aorta, affecting the entire arterial tree, and cardiovascular symptoms may coincide with non-specific connective tissue features. Furthermore, the clinical presentation is more severe and penetrant in males compared to females. The identified BGN variants in the cohort were shown to lead to loss-of-function or were strongly predicted to lead to loss-of-function based on the nature of the variant. No (likely) pathogenic missense variants without additional (predicted) splice effects were identified

Created: 14 Oct 2024, 4:32 a.m. | Last Modified: 14 Oct 2024, 4:32 a.m.

Panel Version: 1.420

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106

Publications

• 38531898

Green List (high evidence)

Established association with childhood-onset syndromic disorders. R/V ZS/AY/SL/AA/JM/CL

Created: 11 Aug 2022, 6:43 a.m. | Last Modified: 11 Aug 2022, 6:43 a.m.

Panel Version: 0.97

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)

I don't know

5 unrelated individuals with syndromic form of severe TAAD (PMID:27632686) plus mouse model (PMID:17502576). Females variably affected.
PMID: 27632686: Affected males had early-onset aortic aneurysm and dissection, with the earliest occurrences at age 1 year and 15 years, respectively.

Two variants reported across 3 families with skeletal dysplasia.
PMID: 27236923: Age at onset of symptoms in all studied affected individuals <2years

Created: 21 Jul 2022, 3:34 a.m. | Last Modified: 21 Jul 2022, 3:34 a.m.

Panel Version: 0.58

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)

Publications

• 27632686
• 17502576
• 27236923