Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly affecting the cutaneous, cardiovascular, and musculos...

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Published inGenes Vol. 12; no. 4; p. 510
Main Authors Verlee, Maxim, Beyens, Aude, Gezdirici, Alper, Gulec, Elif Yilmaz, Pottie, Lore, De Feyter, Silke, Vanhooydonck, Michiel, Tapaneeyaphan, Piyanoot, Symoens, Sofie, Callewaert, Bert
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 31.03.2021
MDPI
Subjects
boys
Case Report
Congenital diseases
Connective tissue
Connective tissue diseases
Emphysema
Extracellular matrix
Fibroblasts
genes
Genotype & phenotype
Guardians
Hernias
Informed consent
loss-of-function mutation
musculoskeletal system
Patients
Skin
United States > US
EFEMP1
cutis laxa
elastic fiber
FBLN3
diaphragmatic hernia
fibulin-3
extracellular matrix
inguinal hernia
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Summary:Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly affecting the cutaneous, cardiovascular, and musculoskeletal systems. We report the case of a 9-year-old boy with a discernible connective tissue disorder characterized by cutis laxa (CL) and multiple herniations and caused by biallelic loss-of-function variants in EFEMP1. Hence, we identified EFEMP1 as a novel disease-causing gene in the CL spectrum, differentiating it from other HDCT.
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ISSN:2073-4425
2073-4425
DOI:10.3390/genes12040510