Open AccessExome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death
Author(s) -
Yuan Xue,
Benedikt Schoser,
Aliz R. Rao,
Roberto Quadrelli,
Alicia Vaglio,
Verena Rupp,
Christine Beichler,
Stanley F. Nelson,
Gudrun SchappacherTilp,
Christian Windpassinger,
William R. Wilcox
Publication year - 2016
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-3268
pISSN - 1942-325X
DOI - 10.1161/circgenetics.115.001193
Subject(s) - biology , exome sequencing , exon , splice site mutation , genetics , gene isoform , myopathy , skeletal muscle , splice , mutation , gene , alternative splicing , endocrinology
Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death.
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