Ehlers Danlos syndromesGene: EFEMP1
PMID 33807164: third unrelated family reported, single affected individual with bi-alllelic LoF variant, cutis laxa and multiple herniations.
Created: 10 May 2021, 10:08 a.m. | Last Modified: 10 May 2021, 10:08 a.m.
Panel Version: 2.57
Monoallelic variants in this gene are associated with a retinal dystrophy. New publications linking bi-allelic variants to a connective tissue disease phenotype:
PMID 31792352 reports one individual with a pronounced connective tissue phenotype presenting multiple and recurrent abdominal and thoracic herniae, myopia, hypermobile joints, scoliosis, and thin translucent skin. This individual has no clinical signs of retinal dystrophy.
PMID 32006683 reports 2 homozygous siblings (consanguinous) with multiple and recurrent herniae, pelvic and rectal prolapse, huge diverticula, marfanoid habitus, joint laxity, dorsal scoliosis, advanced bone age, pectus excavatum, dysmorphic facial features, and myopia.
Both papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance.
Created: 3 Jun 2020, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Connective tissue disorder
Variants in this GENE are reported as part of current diagnostic practice
gene: EFEMP1 was added gene: EFEMP1 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP1 were set to 32006683; 31792352 Phenotypes for gene: EFEMP1 were set to Connective tissue disorder Review for gene: EFEMP1 was set to AMBER