Aortopathy_Connective Tissue Disorders

Gene: EFEMP1

Green List (high evidence)

PMID 33807164: third unrelated family reported, single affected individual with bi-alllelic LoF variant, cutis laxa and multiple herniations.

Created: 27 Apr 2021, 10:59 p.m. | Last Modified: 27 Apr 2021, 10:59 p.m.

Panel Version: 1.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type ID, MIM# 620780

Publications

• 33807164

I don't know

New gene-disease association for EFEMP1: truncating variants (absent in gnomAD):

PMID 31792352 reports one man 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 were homozygous for a truncating in VCPKMT, with no gene-disease association in OMIM, not in Panel App.

Both papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance.
Sources: Literature

Created: 1 Jun 2020, 5:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EFEMP1-related connective tissue disorder

Publications

• 32006683
• 31792352