Ehlers Danlos syndromesGene: LTBP1
Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Created: 14 Jun 2021, 10:46 a.m. | Last Modified: 14 Jun 2021, 10:49 a.m.
Panel Version: 2.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cutis laxa; Craniofacial dysmorphism; Altered skeletal development, including short stature; Brachydactyly; Clinodactyly
gene: LTBP1 was added gene: LTBP1 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to PMID: 33991472 Phenotypes for gene: LTBP1 were set to Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly Penetrance for gene: LTBP1 were set to Complete Review for gene: LTBP1 was set to GREEN