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Research: “The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia”

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Research: “The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia”

Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex with FREM1, a protein whose deficiency causes sac CDH in humans and mice. By sequencing FREM2 and FRAS1 in a CDH cohort, and searching online databases, we identified five individuals who carried recessive or double heterozygous, putatively deleterious variants in these genes which may represent susceptibility alleles. Three of these alleles were significantly enriched in our CDH cohort compared to ethnically matched controls.

Read more here: https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddy110/4956187

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