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https://www.readbyqxmd.com/read/28934750/frontotemporal-dementia-caused-by-the-p301l-mutation-in-the-mapt-gene-clinicopathological-features-of-13-cases-from-the-same-geographical-origin-in-barcelona-spain
#1
Sergi Borrego-Écija, Joana Morgado, Leire Palencia-Madrid, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Mircea Balasa, Anna Antonell, José Luis Molinuevo, Albert Lladó, Marian Martínez de Pancorbo, Ellen Gelpi, Raquel Sánchez-Valle
BACKGROUND/AIMS: We identified and studied 13 patients carrying the P301L mutation in the MAPT gene from the same area (Baix Llobregat County) in Barcelona, Spain. METHODS: The demographic and clinical features were reviewed retrospectively. Detailed neuropathological characterization was obtained in 9 subjects. To investigate the origin of the P301L mutation in these families, 20 single nucleotide polymorphisms (SNPs) in the MAPT gene were analyzed. RESULTS: The mean age at disease onset was 51 years and the mean disease duration was 7 years...
September 22, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28931644/ufm1-founder-mutation-in-the-roma-population-causes-recessive-variant-of-h-abc
#2
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L van der Meij, Barbara Plecko, Susan Blaser, Nicole I Wolf, Quinten Waisfisz, Truus E M Abbink, Marjo S van der Knaap
OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression. RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy...
September 20, 2017: Neurology
https://www.readbyqxmd.com/read/28931071/the-origin-of-multiple-clones-in-the-parthenogenetic-lizard-species-darevskia-rostombekowi
#3
Alexey P Ryskov, Fedor A Osipov, Andrey V Omelchenko, Seraphima K Semyenova, Anastasiya E Girnyk, Vitaly I Korchagin, Andrey A Vergun, Robert W Murphy
The all-female Caucasian rock lizard Darevskia rostombekowi and other unisexual species of this genus reproduce normally via true parthenogenesis. Typically, diploid parthenogenetic reptiles exhibit some amount of clonal diversity. However, allozyme data from D. rostombekowi have suggested that this species consists of a single clone. Herein, we test this hypothesis by evaluating variation at three variable microsatellite loci for 42 specimens of D. rostombekowi from four populations in Armenia. Analyses based on single nucleotide polymorphisms of each locus reveal five genotypes or presumptive clones in this species...
2017: PloS One
https://www.readbyqxmd.com/read/28922471/a-phenotype-combining-hidradenitis-suppurativa-with-dowling-degos-disease-caused-by-a-founder-mutation-in-psenen
#4
M Pavlovsky, O Sarig, M Eskin-Schwartz, N Malchin, R Bochner, J Mohamad, A Gat, A Peled, A Hafner, E Sprecher
Dowling-Degos disease, featuring reticulate pigmentation, and familial hidradenitis suppurativa share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The co-existence of the two disorders was recently found to result from mutations in PSENEN, encoding protein presenilin enhancer gamma-secretase subunit. Here we report 4 additional families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. All patients were found to carry the same, heterozygous mutation in PSENEN (c...
September 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28890889/a-novel-missense-mutation-in-the-aldh13-gene-causes-anophthalmia-in-two-unrelated-iranian-consanguineous-families
#5
Mohammadreza Dehghani, Masoud Dehghan Tezerjani, Zahra Metanat, Mohammad Yahya Vahidi Mehrjardi
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members of two families in which three individuals are suffering from severe bilateral anophthalmia. The genetic analysis revealed a novel missense c...
2017: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28873162/mutation-detection-in-patients-with-advanced-cancer-by-universal-sequencing-of-cancer-related-genes-in-tumor-and-normal-dna-vs-guideline-based-germline-testing
#6
Diana Mandelker, Liying Zhang, Yelena Kemel, Zsofia K Stadler, Vijai Joseph, Ahmet Zehir, Nisha Pradhan, Angela Arnold, Michael F Walsh, Yirong Li, Anoop R Balakrishnan, Aijazuddin Syed, Meera Prasad, Khedoudja Nafa, Maria I Carlo, Karen A Cadoo, Meg Sheehan, Megan H Fleischut, Erin Salo-Mullen, Magan Trottier, Steven M Lipkin, Anne Lincoln, Semanti Mukherjee, Vignesh Ravichandran, Roy Cambria, Jesse Galle, Wassim Abida, Marcia E Arcila, Ryma Benayed, Ronak Shah, Kenneth Yu, Dean F Bajorin, Jonathan A Coleman, Steven D Leach, Maeve A Lowery, Julio Garcia-Aguilar, Philip W Kantoff, Charles L Sawyers, Maura N Dickler, Leonard Saltz, Robert J Motzer, Eileen M O'Reilly, Howard I Scher, Jose Baselga, David S Klimstra, David B Solit, David M Hyman, Michael F Berger, Marc Ladanyi, Mark E Robson, Kenneth Offit
Importance: Guidelines for cancer genetic testing based on family history may miss clinically actionable genetic changes with established implications for cancer screening or prevention. Objective: To determine the proportion and potential clinical implications of inherited variants detected using simultaneous sequencing of the tumor and normal tissue ("tumor-normal sequencing") compared with genetic test results based on current guidelines. Design, Setting, and Participants: From January 2014 until May 2016 at Memorial Sloan Kettering Cancer Center, 10 336 patients consented to tumor DNA sequencing...
September 5, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28864942/a%C3%A2-dutch-myh7-founder-mutation-p-asn1918lys-is-associated-with-early-onset-cardiomyopathy-and-congenital-heart-defects
#7
I H M van der Linde, Y L Hiemstra, R Bökenkamp, A M van Mil, M H Breuning, C Ruivenkamp, S W Ten Broeke, R F Veldkamp, J I van Waning, M A van Slegtenhorst, K Y van Spaendonck-Zwarts, R H Lekanne Deprez, J C Herkert, L Boven, P A van der Zwaag, J D H Jongbloed, M Bootsma, D Q C M Barge-Schaapveld
BACKGROUND: Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. METHODS: In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members. RESULTS: Of the 80 carriers (age range 0-88 years), 46 (57.5%) had cardiomyopathy (mainly dilated cardiomyopathy (DCM)) and seven (8...
September 1, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28860183/single-step-qpcr-and-dpcr-detection-of-diverse-crispr-cas9-gene-editing-events-in-vivo
#8
Micol Falabella, Linqing Sun, Justin Barr, Andressa Z Pena, Erin E Kershaw, Sebastien Gingras, Elena A Goncharova, Brett A Kaufman
CRISPR-Cas9 based technology is currently the most flexible means to create targeted mutations by recombination or indel mutations by non-homologous end joining. During mouse transgenesis, recombinant and indel alleles are often pursued simultaneously. Multiple alleles can be formed in each animal to create significant genetic complexity that complicates the CRISPR-Cas9 approach and analysis. Currently, there are no rapid methods to measure the extent of on-site editing with broad mutation sensitivity. In this study, we demonstrate the allelic diversity arising from targeted CRISPR-editing in founder mice...
August 31, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28840990/a-unique-mutational-spectrum-of-mlc1-in-korean-patients-with-megalencephalic-leukoencephalopathy-with-subcortical-cysts-p-ala275asp-founder-mutation-and-maternal-uniparental-disomy-of-chromosome-22
#9
Sun Ah Choi, Soo Yeon Kim, Jihoo Yoon, Joongmoon Choi, Sung Sup Park, Moon Woo Seong, Hunmin Kim, Hee Hwang, Ji Eun Choi, Jong Hee Chae, Ki Joong Kim, Seunghyo Kim, Yun Jin Lee, Sang Ook Nam, Byung Chan Lim
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840983/diagnostics-and-prognostication-of-myelodysplastic-syndromes
#10
REVIEW
Gina Zini
MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as 'founder' mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#11
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28794114/founder-mutations-in-myosin-binding-protein-c-maybe-not-so-benign-after-all
#12
EDITORIAL
Andrea D Thompson, Sharlene M Day
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28794111/clinical-characteristics-and-long-term-outcome-of-hypertrophic-cardiomyopathy-in-individuals-with-a-mybpc3-myosin-binding-protein-c-founder-mutation
#13
Hannah G van Velzen, Arend F L Schinkel, Rogier A Oldenburg, Marjon A van Slegtenhorst, Ingrid M E Frohn-Mulder, Jolanda van der Velden, Michelle Michels
BACKGROUND: MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of MYBPC3 founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G-) HCM. METHODS AND RESULTS: The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G- probands with HCM. FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM after family screening, 74 FG+/phenotype-negative relatives, and 9 with noncompaction or dilated cardiomyopathy...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28791770/a-novel-apc-promoter-1b-deletion-shows-a-founder-effect-in-italian-patients-with-classical-familial-adenomatous-polyposis-phenotype
#14
Monica Marabelli, Viviana Gismondi, Maria Teresa Ricci, Annalisa Vetro, Raefa Abou Khouzam, Valentina Rea, Marco Vitellaro, Orsetta Zuffardi, Liliana Varesco, Guglielmina Nadia Ranzani
Familial adenomatous polyposis is a Mendelian syndrome in which germline loss-of-function mutations of APC are associated with multiple adenomatous polyps of the large bowel, a multiplicity of extracolonic features, and a high lifetime risk of colorectal cancer. Different APC germline mutations have been identified, including sequence changes, genomic rearrangements, and expression defects. Recently, very rare families have been associated with constitutive large deletions encompassing the APC-5' regulatory region, while leaving the remaining gene sequence intact; the regulatory region contains a proximal and a distal promoter, called 1A and 1B, respectively...
August 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28790484/inherited-predisposition-to-prostate-cancer-from-gene-discovery-to-clinical-impact
#15
Kathleen A Cooney
Family history of prostate cancer is one of the three most important risk factors for the disease in addition to age and race. Yet despite the recognition of this significant heritable component, it has been challenging to identify the genes associated with prostate cancer predisposition. Initial approaches focused on the collection of multiplex prostate cancer families. However, despite more than 20 years of linkage studies, few genes have been identified that account for a significant number of hereditary prostate cancer families...
2017: Transactions of the American Clinical and Climatological Association
https://www.readbyqxmd.com/read/28790155/lmna-mutations-associated-with-mild-and-late-onset-phenotype-the-case-of-the-dutch-founder-mutation-p-arg331gln
#16
EDITORIAL
Eloisa Arbustini, Valentina Favalli, Nupoor Narula
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28790152/lamin-a-c-related-cardiac-disease-late-onset-with-a-variable-and-mild-phenotype-in-a-large-cohort-of-patients-with-the-lamin-a-c-p-arg331gln-founder-mutation
#17
Edgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, Florence H van Tienen, Gerard J Te Meerman, Joeri A Jansweijer, Anthonie J van Essen, Paul G Volders, Alina A Constantinescu, Peter C van den Akker, Karin Y van Spaendonck-Zwarts, Rogier A Oldenburg, Carlo L Marcelis, Jasper J van der Smagt, Eric A Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A Wilde, Arthur van den Wijngaard, Jos L Broers, Jan D Jongbloed, Jolanda van der Velden, Maarten P van den Berg, J Peter van Tintelen
BACKGROUND: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate the effect of this variant, we combined an evaluation of clinical data with functional experiments and morphological studies. METHODS AND RESULTS: Clinical data of 23 probands and 35 family members carrying this variant were retrospectively collected...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28789629/early-onset-parkinson-s-disease-in-a-family-of-moroccan-origin-caused-by-a-p-a217d-mutation-in-pink1-a-case-report
#18
Brendan P Norman, Steven J Lubbe, Manuela Tan, Naomi Warren, Huw R Morris
BACKGROUND: Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson's Disease (EOPD). PINK1 mutations are the second commonest cause of EOPD. Specific mutations may be relatively common in certain populations because of a founder effect. Homozygous p.A217D PINK1 mutations were previously shown to cause EOPD in a large Sudanese kindred. CASE PRESENTATION: Here we report the segregation of homozygous PINK1 p...
August 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28782696/heritability-in-a-scn5a-mutation-founder-population-with-increased-female-susceptibility-to-non-nocturnal-ventricular-tachyarrhythmia-and-sudden-cardiac-death
#19
Rachel M A Ter Bekke, Aaron Isaacs, Andrei Barysenka, Marije B Hoos, Jan D H Jongbloed, Jan C A Hoorntje, Alfons S M Patelski, Apollonia T J M Helderman-van den Enden, Arthur van den Wijngaard, Monika Stoll, Paul G A Volders
BACKGROUND: Heritable cardiac-sodium channel dysfunction is associated with various arrhythmia syndromes, some predisposing to ventricular fibrillation. Phenotypic diversity among carriers of identical-by-descent mutations is often remarkable, suggesting influences of genetic modifiers. OBJECTIVE: The purpose of this study was to identify a unique SCN5A-mutation founder population with mixed clinical phenotypes and sudden cardiac death, and to investigate the heritability of electromechanical traits besides the SCN5A-mutation effect...
August 3, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28765788/a-brazilian-case-of-bernard-soulier-syndrome-with-two-distinct-founder-mutations
#20
Kenji Kanda, Shinji Kunishima, Aya Sato, Daisuke Abe, Setsuko Nishijima, Tsuyoshi Ishigami
Bernard-Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the responsible gene. The compound heterozygosity would have occurred from the global and long-term racial migration that brought about an accidental encounter of two rare mutant alleles of different origins.
2017: Human Genome Variation
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