fbpx
You Are Reading

Research: Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia

0
Uncategorized

Research: Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia

Am J Med Genet A

. 2022 Jul 7.

 doi: 10.1002/ajmg.a.62889. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/35796094/

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia

Yoel Gofin 1 2Xiaonan Zhao 1 3Amanda Gerard 1 2Fernando Scaglia 1 2 4Michael F Wangler 1 2Samantha A Schrier Vergano 5 6Daryl A Scott 1 2 7

Affiliations expand

Abstract

Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. Pathogenic variants in 12 genes have been shown to cause CSS. Most of these genes encode proteins that are a part of the mammalian switch/sucrose non-fermentable (mSWI/SNF; BAF) complex. An association between genes that cause CSS and congenital diaphragmatic hernia (CDH) has been suggested based on case reports and the analysis of CSS and CDH cohorts. Here, we describe an unpublished individual with CSS and CDH, and we report additional clinical information on four published cases. Data from these individuals, and a review of the literature, provide evidence that deleterious variants in ARID1B, ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID2, DPF2, and SMARCC2, which are associated with CSS types 1-8, respectively, are associated with the development of CDH. This suggests that additional genetic testing to identify a separate cause of CDH in an individual with CSS may be unwarranted, and that comprehensive genetic testing for individuals with non-isolated CDH should include an evaluation of CSS-related genes. These data also suggest that the mSWI/SNF (BAF) complex may play an important role in diaphragm development.

Keywords: CDH; Coffin-Siris syndrome; congenital diaphragmatic hernia; exome sequencing.

cuevana 3

Follow @ Instagram

Translate »

TasteKid.com provides Menu of different Restaurant. Now get all Restaurant Menu, Prices, Catering, Near Me locations, Open Hours. You can quickly find Near me Restaurants around your place.

123 movies soap2day