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

ABSTRACT: 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.

SUBMITTER: Verlee M 

PROVIDER: S-EPMC8066907 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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

Verlee Maxim M   Beyens Aude A   Gezdirici Alper A   Gulec Elif Yilmaz EY   Pottie Lore L   De Feyter Silke S   Vanhooydonck Michiel M   Tapaneeyaphan Piyanoot P   Symoens Sofie S   Callewaert Bert B  

Genes 20210331 4

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  ...[more]

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