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Updated: Sep 3, 2025

Transuterine Fetal Tracheal Occlusion Model in Mice
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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Amy Hardcastle1, Aliska M Berry2, Ian M Campbell3

  • 1Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA.

American Journal of Medical Genetics. Part A
|July 29, 2022
PubMed
Summary

Identifying genes involved in congenital diaphragmatic hernia (CDH) is crucial. This study highlights CREBBP, SMARCA4, UBA2, and USP9X as potential contributors to CDH development.

Keywords:
CREBBPDECIPHER databaseSMARCA4UBA2USP9Xcongenital diaphragmatic hernia

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Congenital diaphragmatic hernia (CDH) is a birth defect with an often unknown molecular cause.
  • Understanding genes involved in diaphragm development is key to identifying CDH etiologies.
  • CDH can occur alone or with other birth defects (CDH+).

Purpose of the Study:

  • To identify genes potentially involved in diaphragm development using data from individuals with CDH+.
  • To discover new phenotypic expansions associated with CDH.
  • To leverage public databases for genetic research in rare diseases.

Main Methods:

  • Analysis of clinical and molecular data from 36 individuals with CDH+ in the DECIPHER database.
  • Identification of deleterious sequence or copy number variants in candidate genes.
  • Validation of gene function through expression data in developing mouse diaphragms and machine learning algorithms.

Main Results:

  • Deleterious variants in CREBBP, SMARCA4, UBA2, and USP9X were identified in individuals with CDH+.
  • These genes are expressed in the developing mouse diaphragm.
  • The identified genes show similarity to known CDH-associated genes.

Conclusions:

  • CREBBP, SMARCA4, UBA2, and USP9X are suggested to play a role in diaphragm development.
  • Public databases like DECIPHER are valuable for identifying new CDH-related genes and phenotypes.
  • Further research into these genes may improve understanding and diagnosis of CDH.