![]() read more, transposition of the great vessels Transposition of the Great Arteries (TGA) Transposition of the great arteries (in this case, dextro-transposition) occurs when the aorta arises directly from the right ventricle and the pulmonary artery arises from the left ventricle. It is distinct from structural cardiac disorders such as coronary artery disease, valvular disorders, and congenital heart disorders. read more or other forms of cardiomyopathy Overview of Cardiomyopathies A cardiomyopathy is a primary disorder of the heart muscle. WPW syndrome is mainly idiopathic, although it is more common among patients with hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy is a congenital or acquired disorder characterized by marked ventricular hypertrophy with diastolic dysfunction (eg, due to valvular aortic stenosis, coarctation. 10.1002/ajmg.a.WPW (preexcitation) syndrome is the most common accessory pathway SVT, occurring in about 1 to 3/1000 people. American Journal of Medical Genetics Part A, 158A(9), 2214–2220. Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. Wieacker‐Wolff syndrome with associated cleft palate in a female case. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. American Journal of Human Genetics, 51(6), 1229–1239.īamshad, M. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation. EGFP and β‐tubulin was used as controlĪllen, R. Anti‐ZC4H2 antibody was used to detect the wildtype ZC4H2 protein. EGFP expression plasmid was co‐transfected for transfection efficiency control. (e) HEK293T cells were transiently transfected with plasmids expressing either empty vector, or C‐terminal Flag‐tagged wild‐type ZC4H2 and R67X mutant ZC4H2m. β‐actin or β‐tubulin was used as control. Anti‐GFP antibody was used to detect the N‐terminal EGFP‐tagged proteins by Western blot using 15%Tris‐Glycine SDS‐PAGE gel. (d) HEK293T cells were transfected with plasmids expressing either N‐terminal EGFP‐tagged wild‐type ZC4H2 or R67X mutant ZC4H2m. Wild type and mutant ZC4H2 coding sequences surrounding the mutation were shown. (c) Schematic diagram of ZC4H2 gene structure with mRNA and protein products. R67X) was found in the patient but not in her parents, suggesting that the mutation was de novo. (b) Sanger sequencing of ZC4H2 gene in genomic DNA from the proband and her father and mother. (a) Pedigree of the patient with ZC4H2 p.R67X mutation. Identification of a de novo nonsense mutation R67X in ZC4H2 gene. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. X-chromosome inactivation (XCI) pattern analysis revealed that the XCI ratio of the proband was 22:78.įemale heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker-Wolff syndrome and our study provides a potential new target for the disease treatment.Īrthrogryposis multiplex congenita Wieacker-Wolff syndrome X-chromosome inactivation ZC4H2 nonsense mutation. The mutation is located in the key helix domain and it altered the subcellular locations of the mutant ZC4H2 protein. The mutation resulted in a 66 amino-acid truncated ZC4H2 protein. ![]() We reported a female patient with classical symptoms of WWS and discovered a novel nonsense heterozygous mutation (p.R67X c.199C>T) in ZC4H2 gene in the patient but not in her parents. Expression plasmids were constructed and cell culture and immune-biochemical assays were used to examine the effects of the mutation. Whole-exome sequencing was performed to identify the mutations. However, the underlying mechanism remains elusive. Zinc finger C4H2-type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis. Wieacker-Wolff syndrome (WWS) is a congenital X-linked neuromuscular disorder, which was firstly reported in 1985.
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