POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?

2017 ◽  
Vol 27 ◽  
pp. S140
Author(s):  
R. Rossi ◽  
C. Scotton ◽  
P. Barton ◽  
R. Buchan ◽  
R. Walsh ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Mutation Load ◽  
Load Effect

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

2008 ◽  
Vol 83 (6) ◽  
pp. 630-638 ◽  
Author(s):  
Iacopo Olivotto ◽  
Francesca Girolami ◽  
Michael J. Ackerman ◽  
Stefano Nistri ◽  
J. Martijn Bos ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutation ◽  
Protein Gene ◽  
Mutation Screening

Long Term Optimisation of F8 Gene Mutation Screening by DHPLC

2005 ◽  
pp. 341-343
Author(s):  
C. Klein ◽  
H. Singer ◽  
M. Lim-Eimer ◽  
M. Watzka ◽  
V. Ivaskevicius ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening

scholarly journals Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Haiqiong Wang ◽  
Yongbo Guo ◽  
Zhenkun Dong ◽  
Tao Li ◽  
Xinsheng Xie ◽  
...  
Keyword(s):  
Survival Rate ◽  
Myelodysplastic Syndrome ◽  
Gene Mutation ◽  
Poor Prognosis ◽  
Gene Mutations ◽  
Chromosome 8 ◽  
Common Mutation ◽  
Mutation Load ◽  
Mutation Site ◽  
Increased Risk

Abstract To investigate the U2AF1 gene mutation site, mutation load and co-mutations genes in patients with myelodysplastic syndrome (MDS) and their effects on prognosis. Gene mutation detection by next-generation sequence and related clinical data of 234 MDS patients were retrospectively collected and analyzed for the relationship between the clinical characteristics, treatment efficacy and prognosis of U2AF1 gene mutation. Among the 234 MDS patients, the U2AF1 gene mutation rate was 21.7% (51 cases), and the median variant allele frequency was 39.5%. Compared with the wild type, the U2AF1 mutant had a higher incidence of chromosome 8 aberration, and was positively correlated with the occurrence of ASXL1, RUNX1, SETBP1 gene mutation, negatively correlated with SF3B1, NPM1 genes mutation (p < 0.05). The most common mutation site of U2AF1 was S34F (32 cases), while U2AF1 Q157P site mutations had a higher incidence of chromosome 7 abnormalities (p = 0.003). The U2AF1 gene mutation more frequently coincided with signal pathway related gene mutations (p = 0.043) with a trend of shortened overall survival. Among patients with U2AF1 gene mutations, those with ASXL1 mutations were prone to develop into acute myeloid leukemia, those with RUNX1 mutations had an increased risk of relapse, and those with TET2 mutations had higher 1-year survival rate. Compared with the patient group of lower mutation load (VAF ≤ 40%), the group with higher mutation load of U2AF1 (VAF > 40%) had a significantly lower 1-year survival rate (46.1% and 80.5%, p = 0.027). The criteria of U2AF1 VAF > 40% is an independent indicator for poor prognosis of MDS patients. VAF > 40% of U2AF1 is an independent factor of short OS in MDS patients. MDS patients with a mutation in the Q157P site of U2AF1 and a higher U2AF1 mutation load suggests poor prognosis, and co-mutated genes in U2AF1 can affect disease progression and prognosis.

Haplotype Analysis in Carriers of β-globin Gene Mutation Facilitates Genetic Counseling in β-thalassemia: A Cross-Sectional Study in Kerman Province, Iran

2020 ◽  
Author(s):  
Nasrollah SALEH-GOHARI ◽  
Kolsoum SAEIDI ◽  
Sima ZIAADINI-DASHTKHAKI
Keyword(s):  
Genetic Counseling ◽  
Gene Mutation ◽  
Haplotype Analysis ◽  
Globin Gene ◽  
Mutation Screening ◽  
Hypochromic Anemia ◽  
Cross Sectional Study ◽  
Common Mutation ◽  
Sectional Study ◽  
Cross Sectional

Background: β-thalassemia is characterized by reduced synthesis of the hemoglobin beta chain that results in microcytic hypochromic anemia and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. β-thalassemias are caused by mutations in the β-globin gene, inherited in an autosomal recessive manner. Determining molecular defects in couples carrying β-thalassemia is a prerequisite for prenatal diagnosis of the disease. In this regards, database of β-globin gene haplotypes facilitates mutation detection of the gene and helps genetic counselors to reach the goals of β-thalassemia prevention program. Methods: In this cross-sectional study, 255 couples attended genetic counseling between December 2017 and January 2019 in Afzalipour Hospital, Kerman University of Medical Scinces, Kerman, Iran as suspicious of βthalassemia carriers. Furthermore, they were investigated using amplification refractory mutations system-polymerase chain reaction and restriction fragment length polymorphism methods for mutation screening and haplotype analysis of polymorphic sites in β-globin gene cluster, respectively. Results: We identified 20 different types of β-globin gene mutation in 449 β-thalassemia carriers. Analysis of the pattern of Hind III/Gγ, Hinf I/5′β, Hinc II/3′Ψβ, Rsa I/5′β, AvaII/β and Hind III/Aγ polymorphic sites in 257 alleles of informative families revealed 17 different haplotypes. Haplotype 1 (77.24%) showed strong linkage with the most common mutation IVSI-5 while haplotype 5 (66.67%) was associated with the second frequent mutation IVSII-1. Conclusion: To our knowledge, these β-globin haplotypes are reported for the first time which are different with those found in other parts of Iran. The current haplotypes pattern data makes the counseling of β-thalassemia carriers more straightforward and the process of mutation screening faster and more accurate.

Glucokinase Gene Mutation Screening in Argentinean Clinically Characterized MODY Patients

2009 ◽  
Vol 117 (08) ◽  
pp. 391-394 ◽  
Author(s):  
A. Lopez ◽  
S. Foscaldi ◽  
M. Pérez ◽  
G. Krochik ◽  
M. Rodríguez ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Glucokinase Gene

Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 94S-99S ◽  
Author(s):  
Hidekane Yoshimura ◽  
Chie Oshikawa ◽  
Jun Nakayama ◽  
Hideaki Moteki ◽  
Shin-ichi Usami
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Usher Syndrome ◽  
Japanese Patients ◽  
Pathogenic Mutation ◽  
Clinical Findings ◽  
Syndrome Type ◽  
Asian Populations ◽  
Type 3 ◽  
Usher Syndrome Type

Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients. Results: We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation. Conclusion: This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.

Gene mutation screening using whole exome sequencing in lipid storage myopathy

2015 ◽  
Vol 25 ◽  
pp. S204
Author(s):  
K. Takayama ◽  
S. Mitsuhashi ◽  
I. Nonaka ◽  
S. Noguchi ◽  
I. Nishino
Keyword(s):  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Mutation Screening ◽  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Whole Exome
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