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

scholarly journals Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data

2018 ◽  
Vol 6 (6) ◽  
pp. 1168-1180 ◽  
Author(s):  
D. Matthew Gianferante ◽  
Melissa Rotunno ◽  
Michael Dean ◽  
Weiyin Zhou ◽  
Belynda D. Hicks ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Basal Cell ◽  
Human Gene ◽  
Human Gene Mutation Database ◽  
Whole Exome ◽  
Mutation Database

Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis

2020 ◽  
Author(s):  
Edris Sharif Rahmani ◽  
Majid Fathi ◽  
Mohammad Foad Abazari ◽  
Hojat Shahraki ◽  
Vahid Ziaee Fellow ◽  
...  
Keyword(s):  
Immune System ◽  
Data Analysis ◽  
Exome Sequencing ◽  
Molecular Characterization ◽  
Whole Exome Sequencing ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Mutation Screening ◽  
Positive Family History ◽  
Whole Exome

Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is difficult and not always a successful procedure. Besides, the molecular characterization of HLH due to the locus and allelic heterogeneity is a challenging issue. Materials and Methods: In this experimental study, whole exome sequencing (WES) was used for mutation detection in a four-member Iranian family with children suffering from signs and symptoms of HLH disease. Data analysis was performed by using a multi-step in-house WES approach on Linux OS. Result: In this study, a homozygous nucleotide substitution mutation (c.551G>A:p.W184*) was detected in exon number six of the UNC13D gene. W184* drives to a premature stop codon, so produce a truncated protein. This mutation inherited from parents to a four-month female infant with an autosomal recessive pattern. Parents were carrying out the heterozygous form of W184* without any symptoms. The patient showed clinical signs such as fever, diarrhea, hepatosplenomegaly, high level of ferritin, and a positive family history of HLH disease. W184* has a damaging effect on cytotoxic T lymphocytes, and natural killer cells. These two types of immune system cells without a healthy product of the UNC13D gene will be unable to discharge toxic granules into the synaptic space, so the inflammation in the immune response does not disappear. Conclusion: According to this study, WES can be a reliable, fast, and cost-effective approach for the molecular characterization of HLH patients. Plus, WES specific data analysis platform introduced by this study potentially offers a high-speed analysis step. This cost-free platform doesn't require online data submission.

COL4A1 and COL4A2 Mutations Analyses with Perinatal Arterial İschemic Stroke

2020 ◽  
Author(s):  
Ozan Koçak ◽  
Kursat Bora Carman Bora Carman ◽  
Coskun Yarar ◽  
Hirofumi Kodera ◽  
Hirotomo Saitsu ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Small Vessel Disease ◽  
Mutation Screening ◽  
Laboratory Data ◽  
Sequencing Analysis ◽  
Arterial Ischemic Stroke ◽  
Whole Exome ◽  
Perinatal Arterial Ischemic Stroke

Perinatal arterial ischemic stroke (PAIS) is one of the frequent causes of mortality and morbidity, but its etiology remains unclear. COL4A1 and COL4A2 mutations are monogenetic causes of weakness of the basement vascular membranes resulting in cerebral small-vessel disease, cerebral hemorrhage, and porencephaly. We hypothesized that variations in the COL4A1 and COL4A2 genes cause PAIS and performed mutation screening of these genes in 17 PAIS patients by whole-exome sequencing. Clinical, demographic, and laboratory data of the 17 PAIS patients were obtained by evaluating hospital files retrospectively. Patients included in the study were invited to the clinic for COL4A1 and COL4A2 mutation analysis. Results: The patient group consisted of 13 females (76.5%) and four males (23.5%) with a mean age of 107.4 ± 11.5 months. Maternal/fetal and prothrombotic risk factors identified in 52.9% and 94.1% of the patients, respectively. Whole-exome sequencing analysis did not reveal COL4A1 and COL4A2 pathological mutations in any of the patients.  Although we did not find an association between PAIS and COL4A1 and COL4A2 variations, we believe that new studies with larger patient populations may reveal such a relationship.

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings

2017 ◽  
Vol 32 (10) ◽  
pp. 867-870 ◽  
Author(s):  
Hannah Song ◽  
Sina Haeri ◽  
Hannes Vogel ◽  
Marjo van der Knaap ◽  
Keith Van Haren
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Care ◽  
Mutation Screening ◽  
Medical Decision ◽  
Homozygous Mutation ◽  
Vitro Fertilization ◽  
Whole Exome ◽  
The Impact

Objective: We describe 2 male siblings with a severe, prenatal phenotype of vanishing white matter disease and the impact of whole exome sequencing on their diagnosis and clinical care. Methods: The 2 children underwent detailed clinical characterization, through clinical and laboratory testing, as well as prenatal and postnatal imaging. Biobanked blood from the 2 siblings was submitted for whole exome sequencing at Baylor Laboratories. Results: Both male children had abnormal prenatal neuroimaging and suffered precipitous, fatal neurologic decline. Neuropathologic findings included subependymal pseudocysts, microcalcifications, and profound lack of brain myelin and sparing of peripheral nerve myelin. A novel homozygous mutation in the EIF2B3 gene (c.97A>G [p.Lys33Glu]) was found in both children; both parents were heterozygous carriers. The family subsequently conceived a healthy child via in vitro fertilization with preimplantation mutation screening. Conclusion: These histories expand the prenatal phenotype of eIF2b-related disorders and poignantly illustrate the impact that unbiased genomic sequencing can have on the diagnosis and medical decision making for families affected by childhood neurodegenerative disorders.

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