P220: Expanding the ADAMTS6 loss-of-function syndrome: Congenital diaphragmatic hernia, renal and respiratory anomalies

Genetics in Medicine Open 2026 Open access

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Authors: Ankita Jhuraney, Claire L Wittowski, Sarah Paolucci, Melanie N. Emmerson, Chaofan Zhang, Thomas Nicholas, Steven E. Boyden, Chelsea M. Solorzano, Pınar Bayrak‐Toydemir, Mike Gibbs, Amanda Peterson, Sabrina Malone Jenkins
+6 more Julie Porter, Brian J. Shayota, Angela Armen, Jillian G. Buchan, Timothy J. Mead, Runjun Kumar
DOI: 10.1016/j.gimo.2026.103714
Cited by: 0

Abstract

The metalloprotease ADAMTS6 plays an important role in connective tissue and extracellular matrix (ECM) organization by cleavage of Fibrillin 1 and 2 (FBN1, FBN2), microfibrils essential for ECM structure and function. Recently, patients with heterozygous loss-of-function (LOF) variants in ADAMTS6 have been reported with cardiovascular, connective tissue, and neurodevelopmental features. We present two additional pediatric patients with de novo heterozygous LOF variants in ADAMTS6. Their shared clinical features include congenital diaphragmatic hernia (CDH), renal anomalies, and airway/respiratory anomalies.

Fields of Study & Subjects

Connective tissue disorders research Congenital Diaphragmatic Hernia Studies Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103714–103714
Publication date
1 January 2026
Language
EN