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Article

Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.

European journal of human genetics : EJHG - 1 Dec 2024

Mol M O, van Ham T J, Bannink N, Bruggenwirth H T, Escher J C, Kros J M, Renkens J J M, van Unen L, Verdijk R M, Vlot J, Verhoeven V J M, Demirdas S

Abstract excerpt

Variants in EFEMP1, encoding Fibulin-3, were previously reported as a rare cause of heritable connective tissue disorder (HCTD) with recurrent hernias and joint hypermobility. We report three new cases with biallelic or monoallelic EFEMP1 variants and severe hernia phenotypes. Two male siblings of 10 and 13 years old presented with marfanoid habitus, recurrent inguinal and umbilical hernias, generalized joint...

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Identifiers

PMID: 39367272
DOI: 10.1038/s41431-024-01692-x
PMCID: PMC11607381

Genes

EFEMP1

Variants

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