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https://www.readbyqxmd.com/read/29353266/twenty-seven-mutations-with-three-novel-pathologenic-variants-causing-biotinidase-deficiency-a-report-of-203-patients-from-the-southeastern-part-of-turkey
#1
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, Derya Bulut, Gülşah Seydaoglu, Murat Öktem, Serdar Ceylaner
BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#2
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29352199/prevention-of-retinal-degeneration-in-a-rat-model-of-smith-lemli-opitz-syndrome
#3
Steven J Fliesler, Neal S Peachey, Josi Herron, Kelly M Hines, Nadav I Weinstock, Sriganesh Ramachandra Rao, Libin Xu
Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL. Formation and abnormal accumulation of 7DHC and 7DHC-derived oxysterols occur in SLOS patients and in rats treated with the DHCR7 inhibitor AY9944. The rat SLOS model exhibits progressive and irreversible retinal dysfunction and degeneration, which is only partially ameliorated by dietary CHOL supplementation...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29352063/arabidopsis-thaliana-fancd2-promotes-meiotic-crossover-formation
#4
Marie-Therese Kurzbauer, Monica Pradillo, Claudia Kerzendorfer, Jason Sims, Rene Ladurner, Cecilia Oliver, Michael Peter Janisiw, Magdalena Mosiolek, Dieter Schweizer, Gregory P Copenhaver, Peter Schlogelhofer
Fanconi anemia (FA) is a human autosomal recessive disorder characterized by chromosomal instability, developmental pathologies, predisposition to cancer and reduced fertility. So far, nineteen genes have been implicated in FA, most of them involved in DNA repair. Some are conserved across higher eukaryotes, including plants. The Arabidopsis thaliana genome encodes a homologue of the Fanconi anemia D2 gene (FANCD2) whose function in DNA repair is not yet fully understood. Here we provide evidence that AtFANCD2 is required for meiotic homologous recombination...
January 19, 2018: Plant Cell
https://www.readbyqxmd.com/read/29351643/genetic-dissection-of-the-fuzzless-seed-trait-in-gossypium-barbadense
#5
Qian-Hao Zhu, Yuman Yuan, Warwick Stiller, Yinhua Jia, Pengpeng Wang, Zhaoe Pan, Xiongming Du, Danny Llewellyn, Iain Wilson
Cotton fibres are single-celled trichomes arising from the epidermal cells of the seed coat and may be either long (lint) or very short (fuzz). The dominant fuzzless N1 of Gossypium hirsutum is a defective allele of the At-subgenome homoeolog of MYB25-like, but the genetic components underlying the recessive fuzzless trait from G. barbadense (Gb) are unknown. We have identified five genetic loci, including a major contributing locus containing MYB25-like_Dt, associated with Gb fuzzless seeds based on genotyping of fuzzy and fuzzless near isogenic lines (NILs) from an interspecies cross (G...
January 17, 2018: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29351619/repairing-folding-defective-%C3%AE-sarcoglycan-mutants-by-cftr-correctors-a-potential-therapy-for-limb-girdle-muscular-dystrophy-2d
#6
Marcello Carotti, Justine Marsolier, Michela Soardi, Elisa Bianchini, Chiara Gomiero, Chiara Fecchio, Sara F Henriques, Romeo Betto, Roberta Sacchetto, Isabelle Richard, Dorianna Sandonà
Limb Girdle Muscular Dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan. Nowadays more than 50 different SGCA missense mutations have been reported. They are supposed to impact folding and trafficking of α-sarcoglycan because the defective polypeptide, although potentially functional, is recognized and disposed of by the quality control of the cell. The secondary reduction of α-sarcoglycan partners, β-, γ- and δ-sarcoglycan, disrupts a key membrane complex that, associated to dystrophin, contributes to assure sarcolemma stability during muscle contraction...
January 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29351582/sco2-mutations-cause-early-onset-axonal-charcot-marie-tooth-disease-associated-with-cellular-copper-deficiency
#7
Adriana P Rebelo, Dimah Saade, Claudia P Pereira, Amjad Farooq, Tyler C Huff, Lisa Abreu, Carlos T Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A Schon, Stephan Zuchner, Michael E Shy
Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4. Different from previously described cases, our patients developed predominantly motor neuropathy, they survived infancy, and they have not yet developed the cardiomyopathy that causes death in early infancy in reported patients...
January 16, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#8
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350350/biochemical-changes-and-clinical-outcomes-in-34-patients-with-classic-galactosemia
#9
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1...
January 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29349785/a-novel-mlph-variant-in-dogs-with-coat-colour-dilution
#10
A Bauer, A Kehl, V Jagannathan, T Leeb
Coat colour dilution may be the result of altered melanosome transport in melanocytes. Loss-of-function variants in the melanophilin gene (MLPH) cause a recessively inherited form of coat colour dilution in many mammalian and avian species including the dog. MLPH corresponds to the D locus in many domestic animals, and recessive alleles at this locus are frequently denoted with d. In this study, we investigated dilute coloured Chow Chows whose coat colour could not be explained by their genotype at the previously known MLPH:c...
January 19, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29349575/parkin-in-parkinson-s-disease-and-cancer-a-double-edged-sword
#11
REVIEW
Khushnuma Wahabi, Ahmad Perwez, Moshahid A Rizvi
Parkin for more than a decade has been portrayed as a neuroprotector gene is now increasingly emerging as a multifaceted gene that can exert entirely opposite effects i.e., both cell proliferation and apoptosis. Parkinson's disease, a neurological disease, progresses due to excess in cell death, while, in case of cancer, cell death normally fails to occur. Parkin, an E3 ubiquitin ligase, was first identified as a gene implicated in autosomal recessive juvenile Parkinsonism, but several evidences indicate that Parkin is a tumor suppressor gene, involved in a variety of cancers...
January 18, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29348920/wiskott-aldrich-syndrome-that-was-initially-diagnosed-as-immune-thrombocytopenic-purpura-secondary-to-a-cytomegalovirus-infection
#12
Ryota Kaneko, Shohei Yamamoto, Naoko Okamoto, Kosuke Akiyama, Ryosuke Matsuno, Daisuke Toyama, Akihiro Hoshino, Kohsuke Imai, Keiichi Isoyama
Wiskott-Aldrich syndrome is a rare X-linked recessive disease resulting from variations in the WAS gene. Wiskott-Aldrich syndrome is sometimes difficult to differentiate from immune thrombocytopenic purpura. A 2-month-old boy was admitted to our hospital for purpura and thrombocytopenia. His mean platelet volume was reported to be normal. Treatment with intravenous immunoglobulins failed to improve the patient's platelet count. Subsequently, an acute cytomegalovirus infection was confirmed by serological testing and antigenemia...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29348863/no-association-between-tp53-arg72pro-polymorphism-and-ovarian-cancer-risk-evidence-from-10113-subjects
#13
Anqi Zhang, Ting-Yan Shi, Yuan Zhao, Junmiao Xiang, Danyang Yu, Zongwen Liang, Chaoyi Xu, Qiong Zhang, Yue Hu, Danhan Wang, Jing He, Ping Duan
The TP53 gene product is an important regulator of cell growth and a tumor suppressor. The association between TP53 Arg72Pro polymorphism and ovarian cancer risk has been widely investigated, but the results are contradictory. We therefore searched the PubMed, EMBASE and Chinese Biomedical databases for studies on the relation between TP53 Arg72Pro polymorphism and ovarian cancer risk. Our final meta-analysis included 24 published studies with 3271 cases and 6842 controls. Pooled results indicated that there was no significant association between TP53 Arg72Pro polymorphism and ovarian cancer risk [Pro/Pro vs...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348855/associations-between-erythropoietin-polymorphisms-and-risk-of-diabetic-microvascular-complications
#14
Hua Li, Huipu Xu, Yuerong Li, Dongdong Zhao, Baoxin Ma
We conducted a meta-analysis to evaluate the relationship between erythropoietin (EPO) polymorphisms and diabetic microvascular complications. We searched the PubMed, Embase, Cochrane library, Web of Science, Wanfang, and Chinese National Knowledge Infrastructure databases for appropriate studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to evaluate the associations. Ultimately, eight studies consisting of 2,861 cases and 2,136 controls were identified and included in our meta-analysis...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348134/cerebral-mitochondrial-microangiopathy-leads-to-leukoencephalopathy-in-mitochondrial-neurogastrointestinal-encephalopathy
#15
L L Gramegna, A Pisano, C Testa, D N Manners, R D'Angelo, E Boschetti, F Giancola, L Pironi, L Caporali, M Capristo, M L Valentino, G Plazzi, C Casali, M T Dotti, G Cenacchi, M Hirano, C Giordano, P Parchi, R Rinaldi, R De Giorgio, R Lodi, V Carelli, C Tonon
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29348084/molecular-characterization-of-autosomal-recessive-non-syndromic-hearing-loss-in-selected-families-from-district-mardan-pakistan
#16
Shahid Hussain, Jabar Zaman Khattak, Mohammad Ismail, Qaisar Mansoor, Mohammad Haroon Khan
Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. We included 10 families with history of deafness from district Mardan, Pakistan. Blood sample (5ml) along with personal and clinical information was collected from the available family members including both diseased and un-affected individuals...
January 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29348020/autosomal-recessive-hypercholesterolemia-long-term-cardiovascular-outcomes
#17
Laura D'Erasmo, Ilenia Minicocci, Antonio Nicolucci, Paolo Pintus, Janine E Roeters Van Lennep, Luis Masana, Pedro Mata, Rosa Maria Sánchez-Hernández, Pablo Prieto-Matos, Josè T Real, Juan F Ascaso, Eduardo Esteve Lafuente, Miguel Pocovi, Francisco J Fuentes, Sandro Muntoni, Stefano Bertolini, Cesare Sirtori, Laura Calabresi, Chiara Pavanello, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto, Adolfo Arturo Pacifico, Giovanni Mario Pes, Mariko Harada-Shiba, Enzo Manzato, Sabina Zambon, Alberto Zambon, Anja Vogt, Marco Scardapane, Barbara Sjouke, Renato Fellin, Marcello Arca
BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. OBJECTIVES: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. METHODS: Published ARH cases were identified by electronic search...
January 23, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29346610/novel-mutations-in-the-lipase-h-gene-lead-to-secretion-defects-of-liph-in-chinese-patients-with-autosomal-recessive-woolly-hair-hypotrichosis-arwh-ht
#18
Xiao-Dan Chang, Ya-Juan Gu, Shan Dai, Xue-Rong Chen, Chun-Lei Zhang, Hong-Shan Zhao, Qing-Hua Song
Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c...
January 13, 2018: Mutagenesis
https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#19
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29345845/atypical-familial-mediterranean-fever-developed-in-a-long-term-hemodialysis-patient
#20
Toshiyuki Makino, Yoshitatsu Ohara, Namiko Kobayashi, Yohei Kono, Ayumu Nomizu, Mariko Ichijo, Yutaro Mori, Noriaki Matsui, Dai Kishida, Takayuki Toda
Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. We report a case of atypical FMF that developed in a long-term hemodialysis patient. A 65-year-old Japanese female undergoing hemodialysis for 32 years was referred to our hospital with a fever of unknown origin (FUO) following cervical laminoplasty...
January 18, 2018: Hemodialysis International
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