keyword
MENU ▼
Read by QxMD icon Read
search

Autosomal recessive

keyword
https://www.readbyqxmd.com/read/28098593/familial-dysbetalipoproteinemia-an-underdiagnosed-lipid-disorder
#1
Charlotte Koopal, A David Marais, Frank L J Visseren
PURPOSE OF REVIEW: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. RECENT FINDINGS: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor...
January 16, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#2
Verónica Bindi, Hernán Eiroa
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097853/-clinical-and-molecular-study-in-a-family-with-autosomal-dominant-hypohidrotic-ectodermal-dysplasia
#3
Michele Callea, Francisco Cammarata-Scalisi, Colin E Willoughby, Sabrina R Giglio, Ilaria Sani, Sara Bargiacchi, Giovanna Traficante, Emanuele Bellacchio, Gianluca Tadini, Izzet Yavuz, Angela Galeotti, Gabriella Clarich
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#4
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#5
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#6
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#7
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Seqeira, Benjamin Fass, Pisit Pitukcheewanont
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28095140/prom1-gene-variations-in-brazilian-patients-with-macular-dystrophy
#8
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela Lima Teixeira, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Martin, João Bosco Pesquero, Juliana Maria Ferraz Sallum
BACKGROUND: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. MATERIAL AND METHODS: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28094766/matriptase-mediated-cleavage-of-epcam-destabilizes-claudins-and-dysregulates-intestinal-epithelial-homeostasis
#9
Chuan-Jin Wu, Xu Feng, Michael Lu, Sohshi Morimura, Mark C Udey
Congenital tufting enteropathy (CTE) is a severe autosomal recessive human diarrheal disorder with characteristic intestinal epithelial dysplasia. CTE can be caused by mutations in genes encoding EpCAM, a putative adhesion molecule, and HAI-2, a cell surface protease inhibitor. A similar phenotype occurs in mice whose intestinal epithelial cells (IECs) fail to express the tight junction-associated protein claudin-7. EpCAM stabilizes claudin-7 in IECs, and HAI-2 regulates the cell surface serine protease matriptase, a known modifier of intestinal epithelial physiology...
January 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28093967/anchored-lentiviral-vector-episomes-for-stem-cell-gene-therapy-in-fanconi-anemia
#10
Santhosh Chakkaramakkil Verghese, Peter Kurre
Fanconi anemia (FA) is an autosomal recessive¬, multisystem DNA repair disorder with prominent defects in hematopoietic stem cell maintenance that result in their progressive attrition and failure in early school age. Allogeneic stem cell transplantation has proved curative for patients with suitable donors. This, along with the characteristic survival advantage of phenotypically normal over non-corrected FA stem cells underscores the compelling rationale for stem cell gene therapy in FA. While integrating lentiviral vectors (LV) have become the preferred platform for genetic correction in several hematologic and immunodeficiency disorders, the residual oncogenic potential by these vectors raises concerns in FA stem cells with potentially preexisting genetic lesions...
January 13, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28093717/16-novel-mutations-in-pnpla1-in-patients-with-autosomal-recessive-congenital-ichthyosis-reveal-the-importance-of-an-extended-patatin-domain-in-pnpla1-that-is-essential-for-proper-human-skin-barrier-function
#11
A D Zimmer, G J Kim, A Hotz, E Bourrat, I Hausser, C Has, V Oji, K Stieler, A Vahlquist, V Kunde, B Weber, F P W Radner, S Leclerc-Mercier, N Schlipf, P Demmer, J Küsel, J Fischer
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders characterized by cornification and differentiation defects of keratinocytes. Mutations in nine genes including PNPLA1 are known to cause non-syndromic forms of ARCI. To date, only ten distinct pathogenic mutations in PNPLA1 have been reported. OBJECTIVES: To identify new causative PNPLA1 mutations, we screened genetically unresolved cases including our ARCI collection comprising more than 700 families...
January 17, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28092091/preliminary-results-on-long-term-potentiation-like-cortical-plasticity-and-cholinergic-dysfunction-after-miglustat-treatment-in-niemann-pick-disease-type-c
#12
Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano, Andrea Dardis, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder, which manifests clinically with a wide range of neurological signs and symptoms. We assessed multiple neurological, neuropsychological and neurophysiological biomarkers using a transcranial magnetic stimulation (TMS) multi-paradigm approach in two patients with NPC carrying a homozygous mutation in the NPC1 gene, and in two heterozygous family members.We assessed short-interval intracortical inhibition (SICI), intracortical facilitation (ICF), long-interval intracortical inhibition (LICI), short-latency afferent inhibition (SAI) and long-term potentiation (LTP)-like cortical plasticity with a paired associative stimulation (PAS) protocol...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28091448/oro-dental-characteristics-of-three-siblings-with-papillon-lefevre-syndrome
#13
O E Gungor, H Karayilmaz, H Yalcin, M Hatipoğlu
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder, showing oral and dermatological manifestations in the form of aggressive periodontitis, leading to the premature loss of both primary and permanent teeth at a very young age and palmar-plantar hyperkeratosis. It was first described by two French physicians, Papillon and Lefevre in 1924. Immunologic, genetic, or possible bacterial etiologies have been thought to account for etiopathogenesis of PLS. Severe gingival inflammation and periodontal destruction occurred after the eruption of primary teeth...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28090699/modelling-irf8-deficient-human-hematopoiesis-and-dendritic-cell-development-with-engineered-ips-cells
#14
Stephanie Sontag, Malrun Förster, Jie Qin, Paul Wanek, Saskia Mitzka, Herdit M Schüler, Steffen Koschmieder, Stefan Rose-John, Kristin Seré, Martin Zenke
Human induced pluripotent stem (iPS) cells can differentiate into cells of all three germ layers, including hematopoietic stem cells and their progeny. Interferon regulatory factor 8 (IRF8) is a transcription factor, which acts in hematopoiesis as lineage determining factor for myeloid cells, including dendritic cells (DC). Autosomal recessive or dominant IRF8 mutations occurring in patients cause severe monocytic and DC immunodeficiency. To study IRF8 in human hematopoiesis we generated human IRF8-/- iPS cells and IRF8-/- embryonic stem (ES) cells using RNA guided CRISPR/Cas9n genome editing...
January 16, 2017: Stem Cells
https://www.readbyqxmd.com/read/28090315/chronic-mucocutaneous-candidiasis-disease-associated-with-inborn-errors-of-il-17-immunity
#15
REVIEW
Satoshi Okada, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans. CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper IgE syndrome (HIES), AD signal transducer and activator of transcription 1 (STAT1) gain-of-function, autosomal-recessive (AR) deficiencies in interleukin (IL)-12 receptor β1 (IL-12Rβ1), IL-12p40, caspase recruitment domain-containing protein 9 (CARD9) or retinoic acid-related orphan receptor γT (RORγT) or AR autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) develop CMC as a major infectious phenotype that is categorized as Syndromic CMC...
December 2016: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28089752/three-novel-mutations-of-arg1-identified-in-chinese-patients-with-argininemia-detected-by-newborn-screening
#16
Ting Zhang, Jianbin Yang, Xiaoshan Yin, Ping Yu, Robert Mooney, Xinwen Huang, Ming Qi
Argininemia is a rare autosomal recessive genetic disorder caused by deficiency of arginase Ι, resulting from mutations in the ARG1 gene. Few genetic studies of ARG1 mutations in Chinese patients have been reported. In this study, two argininemia patients were initially diagnosed by tandem mass spectrometry in newborn screening. Mutation analysis of the ARG1 gene was performed by direct sequencing. Three novel mutations were identified and in silico methods were used to predict the impact of these mutations on the activity of enzyme...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#17
Suzan L Harris, Marcin Kazmierczak, Tina Pangršič, Prahar Shah, Nadiya Chuchvara, Alonso Barrantes-Freer, Tobias Moser, Martin Schwander
Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival...
January 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28089251/mutations-in-mapkbp1-cause-juvenile-or-late-onset-cilia-independent-nephronophthisis
#18
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun, Heon Y Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J Oakeley, Pierre Saint Mézard, Andreas W Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28087737/a-homozygous-mutation-in-trim36-causes-autosomal-recessive-anencephaly-in-an-indian-family
#19
Nivedita Singh, Vishwanath Kumble Bhat, Ankana Tiwari, Srinivas G Kodaganur, Sagar J Tontanahal, Astha Sarda, K V Malini, Arun Kumar
Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#20
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Anais Brassier, Pascale de Lonlay, Vincent Vuiblet, Stéphanie Gobin, Rémi Salomon, Christine Piètrement, Jean-Paul Bonnefont, Aude Servais, Louise Galmiche
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980's. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported...
January 10, 2017: Human Pathology
keyword
keyword
85813
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"