Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome

Hypertension
Jillian K WarejkoFriedhelm Hildebrandt

Abstract

Midaortic syndrome (MAS) is a rare cause of severe childhood hypertension characterized by narrowing of the abdominal aorta in children and is associated with extensive vascular disease. It may occur as part of a genetic syndrome, such as neurofibromatosis, or as consequence of a pathological inflammatory disease. However, most cases are considered idiopathic. We hypothesized that in a high percentage of these patients, a monogenic cause of disease may be detected by evaluating whole exome sequencing data for mutations in 1 of 38 candidate genes previously described to cause vasculopathy. We studied a cohort of 36 individuals from 35 different families with MAS by exome sequencing. In 15 of 35 families (42.9%), we detected likely causal dominant mutations. In 15 of 35 (42.9%) families with MAS, whole exome sequencing revealed a mutation in one of the genes previously associated with vascular disease (NF1, JAG1, ELN, GATA6, and RNF213). Ten of the 15 mutations have not previously been reported. This is the first report of ELN, RNF213, or GATA6 mutations in individuals with MAS. Mutations were detected in NF1 (6/15 families), JAG1 (4/15 families), ELN (3/15 families), and one family each for GATA6 and RNF213 Eight individuals had...Continue Reading

References

Mar 1, 1994·The Journal of Clinical Investigation·A K EwartM T Keating
May 10, 2000·Nature Genetics·D F GudbjartssonA Kong
Jun 26, 2002·Journal of the American College of Surgeons·John E ConnollyRoy M Fujitani
Sep 1, 1963·British Heart Journal·P K SENG B PARULKAR
May 26, 2009·Nucleic Acids Research·Dominik SeelowPeter Nürnberg
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jul 16, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Albina TummoloKjell Tullus
Aug 12, 2009·Proceedings of the National Academy of Sciences of the United States of America·Kazuki KodoHiroyuki Yamagishi
Jan 22, 2010·The New England Journal of Medicine·Barbara R Pober
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Apr 23, 2010·Pediatric Cardiology·R Thomas CollinsJonathan J Rome
Jan 3, 2012·Journal of Medical Genetics·Binita Maya KamathNancy Bettina Spinner
Apr 25, 2012·Journal of Hypertension·Joe-Elie SalemPierre-François Plouin
May 16, 2012·Genome Research·Niklas KrummEvan E Eichler
Jun 19, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Diego PorrasHeung B Kim
Nov 22, 2013·Kidney International·Heon Yung GeeFriedhelm Hildebrandt
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
Apr 5, 2014·Journal of the American Society of Nephrology : JASN·Stefan KohlFriedhelm Hildebrandt
Oct 29, 2014·Journal of the American Society of Nephrology : JASN·Carolin E SadowskiFriedhelm Hildebrandt
May 7, 2016·Journal of the American Society of Nephrology : JASN·Asaf VivanteFriedhelm Hildebrandt
Oct 7, 2016·Postgraduate Medical Journal·Satyam VeeanJayanth Keshavamurthy
Apr 20, 2017·American Journal of Medical Genetics. Part a·Claudia SantoroSilverio Perrotta
Oct 29, 2017·Journal of the American Society of Nephrology : JASN·Amelie T van der VenFriedhelm Hildebrandt

❮ Previous
Next ❯

Citations

Apr 30, 2019·Hypertension
Jun 10, 2020·Journal of Hypertension·Daan H H M VieringDetlef Bockenhauer
Sep 6, 2020·Journal of Hypertension·Daan H H M VieringDetlef Bockenhauer
Jun 15, 2021·JAMA Neurology·Adam J KundishoraKristopher T Kahle

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alagille Syndrome

Alagille syndrome is a multi-system genetic disorder that can affect the liver, heart, and other parts of the body. It’s characterization includes heart problems, liver damage, jaundice, and xanthomas. Here is the latest research.

Basal Ganglia Cerebrovascular Disease

Basal ganglia cerebrovascular disease is a condition where the blood vessels in the basal ganglia are damaged or malfunction. Discover the latest research on basal ganglia cerebrovascular disease here.

BioHub - Researcher Network

The Chan-Zuckerberg Biohub aims to support the fundamental research and develop the technologies that will enable physicians to cure, prevent, or manage all diseases in our childrens' lifetimes. The CZ Biohub brings together researchers from UC Berkeley, Stanford, and UCSF. Find the latest research from the CZ Biohub researcher network here.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Related Papers

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Asaf VivanteFriedhelm Hildebrandt
Revista Portuguesa De Cardiologia : Orgão Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology
Sara P MagalhãesFernanda Reis
Clinical Journal of the American Society of Nephrology : CJASN
Jillian K WarejkoFriedhelm Hildebrandt
© 2022 Meta ULC. All rights reserved