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https://www.readbyqxmd.com/read/27912112/ethnic-variation-of-genetic-idiopathic-generalized-epilepsy-in-malaysia
#1
Kheng Seang Lim, Ching Ching Ng, Chung Kin Chan, Wee Shean Foo, Joyce Siew Yong Low, Chong Tin Tan
PURPOSE: Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia. METHOD: In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016...
November 24, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27912044/mutations-in-prosc-disrupt-cellular-pyridoxal-phosphate-homeostasis-and-cause-vitamin-b6-dependent-epilepsy
#2
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain, Matthew Wilson, Basma El Yacoubi, Emma Footitt, W K Chong, Louise C Wilson, Helen Prunty, Simon Pope, Simon Heales, Karine Lascelles, Mike Champion, Evangeline Wassmer, Pierangelo Veggiotti, Valérie de Crécy-Lagard, Philippa B Mills, Peter T Clayton
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine. Deficiency of PLP in the brain can be caused by inborn errors affecting B6 vitamer metabolism or by inactivation of PLP, which can occur when compounds accumulate as a result of inborn errors of other pathways or when small molecules are ingested...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27905021/netherton-syndrome-a-genotype-phenotype-review
#3
REVIEW
Constantina A Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families...
November 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27904025/early-raas-blockade-exerts-renoprotective-effects-in-autosomal-recessive-alport-syndrome
#4
Nao Uchida, Naonori Kumagai, Kandai Nozu, Xue Jun Fu, Kazumoto Iijima, Yoshiaki Kondo, Shigeo Kure
Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport syndrome, and two mutations in either COL4A3 or COL4A4 causes an autosomal recessive Alport syndrome. Recently, renin-angiotensin-aldosterone system (RAAS) blockade has been shown to attenuate effectively disease progression in Alport syndrome...
2016: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27900487/lipoid-proteinosis-unveiled-by-oral-mucosal-lesions-a-comprehensive-analysis-of-137-cases
#5
Boaz Frenkel, Marilena Vered, Shlomo Taicher, Noam Yarom
OBJECTIVES: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by deposits of hyaline material within skin and mucous membranes of the upper aerodigestive tract, especially the vocal cords. We aimed to investigate possible associations between oral LP (oLP) manifestations and demographic data and extra-oral lesions. MATERIAL AND METHODS: Cases of oLP were collected following a systematic search of Medline's PubMed and Google Scholar (1948-2014)...
November 29, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27899325/dystrophic-epidermolysis-bullosa-col7a1-mutation-landscape-in-a-multi-ethnic-cohort-of-152-extended-families-with-high-degree-of-customary-consanguineous-marriages
#6
Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, Amir Hossein Saeidian, Soheila Sotudeh, Nikoo Mozafari, Maryam Abiri, Abdolmohammad Kajbafzadeh, Mohammadreza Barzegar, Adam Ertel, Paolo Fortina, Jouni Uitto
Dystrophic epidermolysis bullosa (DEB) is a heritable skin disease manifesting with sub-lamina densa blistering, erosions and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for DEB. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology and immunoepitope mapping. Mutation detection consisted of a combination of a single nucleotide polymorphism-based whole genome homozygosity mapping, Sanger sequencing and gene targeted next generation sequencing...
October 27, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27897311/the-evolutionary-and-clinical-implications-of-the-uneven-distribution-of-the-frequency-of-the-inherited-haemoglobin-variants-over-short-geographical-distances
#7
Anuja Premawardhena, Angela Allen, Fred Piel, Chris Fisher, Laxman Perera, Rexan Rodrigo, Gayan Goonathilaka, Lebbe Ramees, Tim Peto, Nancy Olivieri, David Weatherall
Studies of the frequency of heterozygous carriers for common inherited diseases of haemoglobin in over 7500 adolescent children in 25 districts in Sri Lanka have disclosed a highly significant variation over very short geographical distances. A further analysis of these findings, including their relationship to the past frequency and distribution of malaria, climatic variation, altitude, ethnic origin and consanguinity rates, have provided evidence regarding the evolutionary basis for the variable distribution of these conditions over short distances...
November 29, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27894217/diagnosis-clinical-manifestations-and-management-of-rare-bleeding-disorders-in-iran
#8
Akbar Dorgalaleh, Sayed Ezatolla Rafiee Alavi, Shadi Tabibian, Shahrzad Soori, Es'hagh Moradi, Taregh Bamedi, Mansour Asadi, Masumeh Jalalvand, Morteza Shamsizadeh
BACKGROUND: Rare bleeding disorders (RBDs) are heterogeneous disorders, mostly inherited in an autosomal recessive pattern. Iran is a Mideast country with a high rate of consanguinity that has a high rate of RBDs. OBJECTIVE: In this study, we present prevalence and clinical presentation as well as management and genetic defects of Iranian patients with RBDs. METHODS: For this study, all relevant publications were searched in Medlin until 2015...
November 28, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27893166/the-association-between-parental-consanguinity-and-primary-immunodeficiency-diseases-a-systematic-review-and-meta-analysis
#9
Hasti Hadizadeh, M Masoud Salehi, Shabnam Khoramnejad, Kia Vosoughi, Nima Rezaei
BACKGROUND: We aimed to establish the prevalence of parental consanguinity among patients with primary immunodeficiency diseases (PID), and compare the prevalence with the general population. METHOD: We searched PubMed, EMBASE, and Scopus for studies mentioning parental consanguinity prevalence in PID patients and calculated the prevalence odds ratio (POR) of parental consanguinity in each study, compared to a matched healthy population. RESULTS: We identified 21 eligible studies with a total population of 18091 accounting for sample overlap...
November 28, 2016: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/27892944/veno-occlusive-disease-sinusoidal-obstruction-syndrome-after-haematopoietic-stem-cell-transplantation-middle-east-north-africa-regional-consensus-on-prevention-diagnosis-and-management
#10
A H Al Jefri, H Abujazar, A Al-Ahmari, A Al Rawas, Z Al Zahrani, A Alhejazi, M A Bekadja, A Ibrahim, M Lahoucine, S Ousia, A Bazarbachi
Veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) of the liver is a serious, early complication of haematopoietic stem cell transplantation (HSCT), severe and very severe forms of which are associated with a high mortality rate. A wide variety of patient, disease and treatment-related risk factors for VOD/SOS have been identified. Several bodies have published recommendations for the diagnosis, prevention and management of VOD/SOS following HSCT. A group of regional experts have developed a consensus statement on the diagnosis, prevention and management of VOD/SOS in the Middle East and North Africa region to help in the management of HSCT patients in the region...
November 28, 2016: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/27892788/vitamin-a-deficiency-due-to-bi-allelic-mutation-of-rbp4-there-s-more-to-it-than-meets-the-eye
#11
Kamron N Khan, Keren Carss, F Lucy Raymond, Farrah Islam, Nihr BioResource-Rare Diseases Consortium, Anthony T Moore, Michel Michaelides, Gavin Arno
Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome sequencing. Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency...
November 28, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27892699/genetics-of-consanguinity-and-inbreeding-in-health-and-disease
#12
Mohd Fareed, Mohammad Afzal
CONTEXT: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases Objective: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders...
November 28, 2016: Annals of Human Biology
https://www.readbyqxmd.com/read/27890707/novel-mutation-in-dock8-hies-with-severe-phenotype-and-successful-transplantation
#13
Latifa Al Shekaili, Farrukh Sheikh, Sulaiman Al Gazlan, Hasan Al Dhekri, Hamoud Al Mousa, Abdulaziz Al Ghonaium, Bander Al Saud, Saleh Al Mohsen, Agha M Rehan Khaliq, Safiah Al Sumayli, Mufarreh Al Zahrani, Anas Dababo, Ammar AlKawi, Abbas Hawwari, Rand Arnaout
BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution...
November 23, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27886392/deregulated-expression-of-ezh2-in-congenital-brainstem-disconnection
#14
P G Barth, E Aronica, S Fox, K Fluiter, M A J Weterman, A Poretti, D C Miller, E Boltshauser, B Harding, M Santi, F Baas
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and the cerebellum is globally hypoplastic. A recent update and review[1] lists 14 cases, including 3 brain autopsy studies[1-3]. Necrosis and glial- or inflammatory reactions were absent. Inferior olivary nuclei were small or absent, pontine nuclei depleted, and the cerebellar dentate nuclei dysplastic...
November 25, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#15
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27879471/molecular-basis-of-congenital-factor-xiii-deficiency-in-iran
#16
Akbar Dorgalaleh, Vahideh Assadollahi, Shadi Tabibian, Morteza Shamsizadeh
Factor XIII deficiency (FXIIID) is an extremely rare autosomal recessive disorder that has the highest incidence in Iran. The FXIIID is primarily due to mutations in the FXIII-A gene, most of which are unique. In the current study, we report all identified mutations among Iranian patients. Among 483 patients, 366 (75.8%) were molecularly analyzed; 11 different mutations were observed. Of 11, 8 (72.7%) are missense, whereas the remaining 3 (27.3%) are deletion/insertion. Among these patients, 347 (94.9%) had the unique mutation of c...
November 21, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27878435/novel-phenotypes-and-loci-identified-through-clinical-genomics-approaches-to-pediatric-cataract
#17
Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S Alsaif, Niema Ibrahim, Firdous M Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A Aldahmesh, Salil A Lachke, Fowzan S Alkuraya
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement...
November 22, 2016: Human Genetics
https://www.readbyqxmd.com/read/27874213/questioning-the-clinical-utility-of-exome-sequencing-in-developing-countries
#18
Kenneth Fong, Celeste V Bailey, Peggy Tuttle, Bari Cunningham, John A McGrath, Raymond J Cho
The availability of whole-exome sequencing has revolutionized the study of genetic disease in recent years, particularly in dermatology, where clinical phenotypes are readily recognized. As this technology becomes increasingly affordable and accessible, questions are emerging regarding the clinical and ethical responsibilities of physicians who determine variants underlying disease, especially with regard to children, for whom treatment may be warranted and clinical course improved based on a known genotype...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27874104/identifying-mutations-in-tunisian-families-with-retinal-dystrophy
#19
Imen Habibi, Ahmed Chebil, Yosra Falfoul, Nathalie Allaman-Pillet, Fedra Kort, Daniel F Schorderet, Leila El Matri
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequencing followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Mutation analysis in our patients revealed two compound heterozygous mutations p.(R91W);(V172D) in RPE65, and five novel homozygous mutations: p...
November 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27871432/a-novel-mutation-in-pgap2-gene-causes-developmental-delay-intellectual-disability-epilepsy-and-microcephaly-in-consanguineous-saudi-family
#20
Muhammad Imran Naseer, Mahmood Rasool, Mohammed M Jan, Adeel G Chaudhary, Peter Natesan Pushparaj, Adel M Abuzenadah, Mohammad H Al-Qahtani
PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly...
December 15, 2016: Journal of the Neurological Sciences
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