Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

To find new genes that cause congenital diaphragmatic hernia (CDH)—a severe life-threatening birth defect—we used previously published data generated using a machine learning algorithm that compared all genes in the genome to a small set of known CDH genes. By comparing patterns using the machine learning algorithm data, and using information from a clinical database and previously published case reports, we found evidence that damaging changes in ALG12EP300FOXP1SMARCA4, and BRCA2 can cause CDH in a small percentage of affected individuals. This same method could be used to identify new genes for other structural birth defects. (By Dr. Daryl A Scott, https://jmg.bmj.com/content/early/2021/01/17/jmedgenet-2020-107317 )

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