19 research outputs found
Increased Burden of Rare Protein-Truncating Variants in Constrained, Brain-specific and Synaptic Genes In Extremely Impulsively Violent Males with Antisocial Personality Disorder
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
Cloning and Expression Analysis of a Gene Encoding for Ascorbate Peroxidase and Responsive to Salt Stress in Beet (Beta vulgaris)
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
PB1750: REARRANGEMENTS OF T-CELL RECEPTOR (TCR) LOCI IN CHILDREN WITH T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system
Mutations in ANTXR1 Cause GAPO Syndrome
Contains fulltext :
116575.pdf (publisher's version ) (Closed access)The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [p.Arg88(*)] and c.505C>T [p.Arg169(*)]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs(*)119]) in ANTXR1, which encodes anthrax toxin receptor 1. The nonsense mutations predictably trigger nonsense-mediated mRNA decay, resulting in the loss of ANTXR1. The transcript with the splicing mutation theoretically encodes a truncated ANTXR1 containing a neopeptide composed of 118 unique amino acids in its C terminus. GAPO syndrome's major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation. Thus, we propose that mutations affecting ANTXR1 function are responsible for this disease's characteristic generalized defect in extracellular-matrix homeostasis.8 p