Aortopathy_Connective Tissue Disorders
Gene: IPO8
Phenotypes
Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472
Publications
12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Expert ReviewCreated: 26 Mar 2021, 4:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPO8 were changed from Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Publications for gene: IPO8 were set to
Gene: ipo8 has been classified as Green List (High Evidence).
Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: IPO8 were changed from to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Gene: ipo8 has been classified as Amber List (Moderate Evidence).
gene: IPO8 was added gene: IPO8 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Penetrance for gene: IPO8 were set to Complete Review for gene: IPO8 was set to AMBER