Aortopathy_Connective Tissue Disorders
Gene: BGNComment when marking as ready: Females variably affected.Created: 25 Jun 2020, 8:22 a.m. | Last Modified: 25 Jun 2020, 8:22 a.m.
Panel Version: 0.40
5 unrelated individuals with TAAD (PMID:27632686) plus mouse model (PMID:17502576)
PMID:27632686
Proband associated with syndromic TAAD: c.5G>A, p.Trp2*, 21 kb del: chrX:152767424-152787984 28 kb del: chrX:152768438-152795976, c.908A>C, p.Gln303Pro, c.238G>A, p.Gly80Ser. Some segregation evidence and mutation-carrying females ranged from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection.
PMID:17502576
Biglycan deficiency in male BALB/cA mice has been shown to lead to sudden death due to aortic rupture.
GEL PanelApp: As per evidence above.
ClinGen assessment uncertain due to focus on isolated TAAD; however support involvement of BGN in syndromic TAAD: "Strong for syndromic , X-linked TAAD and “limited” for isolated TAAD. The curation shows strong assertion with syndromic TAAD. There was 1 reported proband with isolated TAAD harboring variant in this gene. Given this, the association with isolated TAAD should be limited."Created: 25 Jun 2020, 4:55 a.m. | Last Modified: 25 Jun 2020, 6:21 a.m.
Panel Version: 0.29
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
Heritable Thoracic Aortic Aneurysm and Dissection
Publications
Gene: bgn has been classified as Green List (High Evidence).
Gene: bgn has been classified as Green List (High Evidence).
Mode of inheritance for gene: BGN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BGN were set to
Phenotypes for gene: BGN were changed from to Meester-Loeys syndrome, MIM# 300989
gene: BGN was added gene: BGN was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BGN was set to Unknown