Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.

Nadra SamraNicolette S JansenIlham MoraniReli Rachel KakunRinat ZaidTamar PapernaMario Garcia-DominguezYuri VinerHilel FrankenthalEric S ShinwellIgor PortnovDoua BakryAdel ShalataMika Shapira RootmanDvora KidronLaura A ClaessensRon A WeversHanna MandelAlfred C O Vertegaal Karin Weiss

Published in: Journal of medical genetics (2023)

Our results suggest a critical role for SENP7 in nervous system development, haematopoiesis and immune function in humans.

Keyphrases

respiratory failure
extracorporeal membrane oxygenation
mechanical ventilation
high throughput
copy number
acute respiratory distress syndrome
real time pcr
genome wide