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https://www.readbyqxmd.com/read/28820682/case-report-a-case-of-plasmodium-falciparum-hrp2-and-hrp3-gene-mutation-in-bangladesh
#1
Maisha Khair Nima, Thomas Hougard, Mohammad Enayet Hossain, Mohammad Golam Kibria, Abu Naser Mohon, Fatema Tuj Johora, Rajibur Rahman, Rashidul Haque, Mohammad Shafiul Alam
Several species of Plasmodium are responsible for causing malaria in humans. Proper diagnoses are crucial to case management, because severity and treatment varies between species. Diagnoses can be made using rapid diagnostic tests (RDTs), which detect Plasmodium proteins. Plasmodium falciparum causes the most virulent cases of malaria, and P. falciparum histidine-rich protein 2 (PfHRP2) is a common target of falciparum malaria RDTs. Here we report a case in which a falciparum malaria patient in Bangladesh tested negative on PfHRP2-based RDTs...
August 7, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28819299/the-correlation-between-crb1-variants-and-the-clinical-severity-of-brazilian-patients-with-different-inherited-retinal-dystrophy-phenotypes
#2
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is important for cell-to-cell contact, polarization of epithelial cells and the morphogenesis of photoreceptors. Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#3
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28815563/bone-marrow-failure-syndrome-caused-by-homozygous-frameshift-mutation-in-the-ercc6l2-gene
#4
Tekla Järviaho, Kimmo Halt, Pasi Hirvikoski, Jukka Moilanen, Merja Möttönen, Riitta Niinimäki
Inherited bone marrow failure syndromes (IBMFS) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, DNA repair, and the cell cycle cause IBMFS. ERCC6L2 gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report two cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described...
August 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28814288/monoallelic-characteristic-bearing-heterozygous-l1053x-in-brca2-gene-among-sudanese-women-with-breast-cancer
#5
Alsmawal A Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N Altayb, Mohamed Adel Taha, Mohammed N Nimir, Mohamed D Dafaalla, Musaab M Alfaki, Mohamed A Abdelrahim, Abdelmohaymin A Abdalla, Musab I Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC...
August 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#6
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28803425/frameshift-mutations-in-repeat-sequences-of-ank3-hacd4-tcp10l-tp53bp1-mfn1-lcmt2-rnmt-trmt6-mettl8-and-mettl16-genes-in-colon-cancers
#7
Su Yeon Yeon, Yun Sol Jo, Eun Ji Choi, Min Sung Kim, Nam Jin Yoo, Sug Hyung Lee
Diminished ANK3 contributes to cell survival by inhibiting detachment-induced apoptosis. TP53BP1 that interacts with p53 and MFN1 that encodes a mitochondrial membrane protein are considered to have tumor suppressor gene (TSG) functions. HACD4 involving fatty acid synthesis and TCPL10 with transcription regulation functions are considered TSGs. Many genes involved in DNA methylations such as LCMT2, RNMT, TRMT6, METTL8 and METTL16 are often perturbed in cancer. The aim of our study was to find whether these genes were mutated in colorectal cancer (CRC)...
August 12, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28801929/validation-and-application-of-a-novel-integrated-genetic-screening-method-to-a-cohort-of-1-112-men-with-idiopathic-azoospermia-or-severe-oligozoospermia
#8
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman, Stephane Viville, Petra F de Vries, Dominique F C M Smeets, Dorien Lugtenberg, Jayne Y Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E L M Vissers, Alexander Hoischen, Aukje M Meijerink, Kathrin Fleischer, Joris A Veltman, Michiel J Noordam
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY) and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations (CNVs) affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility genes...
August 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28801591/new-variant-and-expression-studies-provide-further-insight-into-the-genotype-phenotype-correlation-in-yap1-related-developmental-eye-disorders
#9
R Holt, F Ceroni, D A Bax, S Broadgate, D Gold Diaz, C Santos, D Gerrelli, N K Ragge
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28792715/mutational-screening-of-pkd1-and-pkd2-genes-in-iranian-population-diagnosed-with-autosomal-dominant-polycystic-kidney-disease
#10
Fariba Ranjzad, Ahmad Tara, Abbas Basiri, Nasser Aghdami, Reza Moghadasali
BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most frequent cause of endstage renal disease (ESDR), occurring at a varying frequency of 1/400 to 1/800 persons. The disease affects all ethnic groups worldwide, and there is a need for population based studies to be carried out for better diagnostic, genetic counselling, and treatment purpose. METHODS: Eighteen unrelated probands (10 males and 8 females) with a familial history of ADPKD were selected for the study...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28792378/staphylococcal-enterotoxin-type-r-pseudogene-presence-in-staphylococcus-aureus-reference-and-outbreak-strains
#11
Jennifer M Hait, Reginald W Bennett, Steven R Monday
Novel staphylococcal enterotoxins (SEs) expressed by Staphylococcus aureus strains have been described throughout the years, among these being the SE protein SER. To further characterize this toxin, this research used 13 S. aureus strains previously determined to contain the SE type R (ser) gene. These S. aureus isolates were evaluated using serological assays for identification of SEA–SEE and PCR for the detection of newly described SE and SE-like enterotoxin genes seg–seu. PCR-based cloning was performed such that the ser gene could be ligated into the pTrc99A plasmid expression vector...
August 8, 2017: Journal of AOAC International
https://www.readbyqxmd.com/read/28781843/a-novel-frameshift-mutation-of-malonyl-coa-decarboxylase-deficiency-clinical-signs-and-therapy-response-of-a-late-diagnosed-case
#12
Melike Ersoy, Mehmet Bedir Akyol, Serdar Ceylaner, Nihan Çakır Biçer
We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both cardiac and neurologic involvements were mild when compared to previously reported cases, and see low-fat/high-carbohydrate diet treatment is highly effective.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28777844/-a-novel-mutation-of-gli3-gene-underlying-synpolydactyly-in-a-family
#13
Ranran Kang, Sexin Huang, Jie Li, Yang Zou, Peiwen Xu, Ming Gao, Lijuan Wang, Hongqiang Xie, Junhao Yan, Yuan Gao
OBJECTIVE: To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly. METHODS: Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing. RESULTS: A heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28774765/novel-mutations-of-hsd17b3-in-three-chinese-patients-with-46-xy-disorders-of-sex-development
#14
Bingqing Yu, Zhaoxiang Liu, Jiangfeng Mao, Xi Wang, Junjie Zheng, Shuyu Xiong, Mingxuan Cui, Wanlu Ma, Qibin Huang, Hongli Xu, Bingkun Huang, Min Nie, Xueyan Wu
17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) converts the inactive Δ4-androstenedione (A) to testosterone (T). Its deficiency is the most common testosterone biosynthesis defect that results in 46,XY Disorders Of Sex Development (DSD). However, the disease is difficult to distinguish from other 46,XY DSD for similar clinical phenotypes. Therefore, genetic testing provides good criteria for the diagnosis of the disease. In this study, HSD17B3 gene was examined in 3 unrelated Chinese patients with 46,XY DSD...
August 1, 2017: Steroids
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#15
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28768465/interaction-between-hb-e-and-hb-yala-hbb-c-129delt-a-novel-frameshift-beta-globin-gene-mutation-resulting-in-hemoglobin-e-%C3%AE-0-thalassemia
#16
Supachai Ekwattanakit, Suchada Riolueang, Vip Viprakasit
OBJECTIVES: There are more than 200 known mutations found in patients with β-thalassemia, a possibility to identify an unknown or novel mutation becomes less possible. Here, we report a novel mutation in a patient from Thailand who presented with chronic hemolytic anemia. METHODS: A comprehensive hematology and DNA analysis was applied in the index patient and her mother. RESULTS: Hematological and hemoglobin analyses were consistent with the clinical diagnosis of Hb E/β(0)-thalassemia...
August 3, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28766925/posterior-column-ataxia-with-retinitis-pigmentosa-coexisting-with-sensory-autonomic-neuropathy-and-leukemia-due-to-the-homozygous-p-pro221ser-flvcr1-mutation
#17
Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando
FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p...
August 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#18
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28761321/sequence-variants-in-four-genes-underlying-bardet-biedl-syndrome-in-consanguineous-families
#19
Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-Ud-Din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B Haack, Tim M Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad
PURPOSE: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. METHODS: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. RESULTS: Sanger sequencing revealed two novel mutations and three previously reported mutations in the BBS genes...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761125/modeling-dominant-and-recessive-forms-of-retinitis-pigmentosa-by-editing-three-rhodopsin-encoding-genes-in-xenopus-laevis-using-crispr-cas9
#20
Joanna M Feehan, Colette N Chiu, Paloma Stanar, Beatrice M Tam, Sheikh N Ahmed, Orson L Moritz
The utility of Xenopus laevis, a common research subject for developmental biology, retinal physiology, cell biology, and other investigations, has been limited by lack of a robust gene knockout or knock-down technology. Here we describe manipulation of the X. laevis genome using CRISPR/Cas9 to model the human disorder retinitis pigmentosa, and to introduce point mutations or exogenous DNA sequences. We introduced and characterized in-frame and out-of-frame insertions and deletions in three genes encoding rhodopsin by co-injection of Cas9 mRNA, eGFP mRNA, and single guide RNAs into fertilized eggs...
July 31, 2017: Scientific Reports
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