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Smith lemli opitz syndrome

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https://www.readbyqxmd.com/read/28719049/pulmonary-vein-stenosis-in-patients-with-smith-lemli-opitz-syndrome
#1
Aaron R Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E Roberts
OBJECTIVE: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders. DESIGN: Retrospective case series. PATIENTS: Five subjects in a pulmonary vein stenosis cohort of 170 subjects were diagnosed with Smith-Lemli-Opitz syndrome soon after birth. RESULTS: All five cases were diagnosed with Smith-Lemli-Opitz syndrome within 6 weeks of life, with no family history of either disorder...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28686747/functional-analysis-of-the-zebrafish-ortholog-of-hmgcs1-reveals-independent-functions-for-cholesterol-and-isoprenoids-in-craniofacial-development
#2
Anita M Quintana, Jose A Hernandez, Cesar G Gonzalez
There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understood, primarily because of the diverse functions associated with the cholesterol synthesis pathway. Recent evidence has demonstrated that mutation of the zebrafish ortholog of HMGCR results in orofacial clefts. Here we sought to expand upon these data, by deciphering the cholesterol dependent functions of the cholesterol synthesis pathway from the cholesterol independent functions...
2017: PloS One
https://www.readbyqxmd.com/read/28544305/a-practical-guide-for-evaluating-gonadal-germ-cell-tumor-predisposition-in-differences-of-sex-development
#3
REVIEW
Louise C Pyle, Katherine L Nathanson
Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Prognostication based on molecular diagnosis remains challenging, as natural history data specific to recently identified molecular causes of DSD is lacking. In this review, we provide a framework for the clinical geneticist to consider GCT tumor risk in the patient with DSD...
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28503313/novel-dhcr7-mutation-in-a-case-of-smith-lemli-opitz-syndrome-showing-46-xy-disorder-of-sex-development
#4
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28349652/normal-iq-is-possible-in-smith-lemli-opitz-syndrome
#5
Yasemen Eroglu, Mina Nguyen-Driver, Robert D Steiner, Louise Merkens, Mark Merkens, Jean-Baptiste Roullet, Ellen Elias, Geeta Sarphare, Forbes D Porter, Chumei Li, Elaine Tierney, Małgorzata J Nowaczyk, Kurt A Freeman
Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing in four centers. All children with at least one IQ composite score above 80 were included in the study...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28258022/probes-for-protein-adduction-in-cholesterol-biosynthesis-disorders-alkynyl-lanosterol-as-a-viable-sterol-precursor
#6
Keri A Tallman, Hye-Young H Kim, Zeljka Korade, Thiago C Genaro-Mattos, Phillip A Wages, Wei Liu, Ned A Porter
The formation of lipid electrophile-protein adducts is associated with many disorders that involve perturbations of cellular redox status. The identities of adducted proteins and the effects of adduction on protein function are mostly unknown and an increased understanding of these factors may help to define the pathogenesis of various human disorders involving oxidative stress. 7-Dehydrocholesterol (7-DHC), the immediate biosynthetic precursor to cholesterol, is highly oxidizable and gives electrophilic oxysterols that adduct proteins readily, a sequence of events proposed to occur in Smith-Lemli-Opitz syndrome (SLOS), a human disorder resulting from an error in cholesterol biosynthesis...
August 2017: Redox Biology
https://www.readbyqxmd.com/read/28250423/prevalence-of-four-mendelian-disorders-associated-with-autism-in-2392-affected-families
#7
Avi Saskin, Vanessa Fulginiti, Ashley H Birch, Yannis Trakadis
Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research...
June 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28220990/oxidative-stress-serotonergic-changes-and-decreased-ultrasonic-vocalizations-in-a-mouse-model-of-smith-lemli-opitz-syndrome
#8
N F Sharif, Z Korade, N A Porter, F E Harrison
Smith-Lemli-Opitz syndrome is an inherited monogenic disorder in which mutations to the 7-dehydrocholesterol (7-DHC) reductase (Dhcr7) gene lead to deficits in cholesterol synthesis. As a result, many patients suffer from gross physiological and neurological deficits. The purpose of this study was to identify a potential abnormal behavioral phenotype in a compound mutant mouse model for Smith-Lemli-Opitz disease (Dhcr7 (Δ3)(-5/)(T93M) ) to further validate the model and to provide potential targets for future therapeutic interventions...
July 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28174017/propagation-rate-constants-for-the-peroxidation-of-sterols-on-the-biosynthetic-pathway-to-cholesterol
#9
Connor R Lamberson, Hubert Muchalski, Kari B McDuffee, Keri A Tallman, Libin Xu, Ned A Porter
The free radical chain autoxidation of cholesterol and the oxidation products formed, i.e. oxysterols, have been the focus of intensive study for decades. The peroxidation of sterol precursors to cholesterol such as 7-dehydrocholesterol (7-DHC) and desmosterol as well as their oxysterols has received less attention. The peroxidation of these sterol precursors can become important under circumstances in which genetic conditions or exposures to small molecules leads to an increase of these biosynthetic intermediates in tissues and fluids...
February 5, 2017: Chemistry and Physics of Lipids
https://www.readbyqxmd.com/read/28166604/smith-lemli-opitz-syndrome-carrier-frequency-and-estimates-of-in-utero-mortality-rates
#10
Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg
OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: A total of 262 399 individuals with no known indication or increased probability of SLOS carrier status, primarily US based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups...
April 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28087213/cholesterolomics-an-update
#11
REVIEW
William J Griffiths, Jonas Abdel-Khalik, Eylan Yutuc, Alwena H Morgan, Ian Gilmore, Thomas Hearn, Yuqin Wang
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample. These molecules include 1,25-dihydroxyvitamin D3, steroid hormones and bile acids and intermediates in their respective biosynthetic pathways. In this short article we will concentrate our attention on intermediates in bile acid biosynthesis pathways, in particular oxysterols and cholestenoic acids. These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, motor neuron disease, breast cancer, the lysosomal storage disease Niemann-Pick type C and the autosomal recessive disorder Smith-Lemli-Opitz syndrome...
May 1, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/27697512/dhcr7-a-vital-enzyme-switch-between-cholesterol-and-vitamin-d-production
#12
REVIEW
Anika V Prabhu, Winnie Luu, Dianfan Li, Laura J Sharpe, Andrew J Brown
The conversion of 7-dehydrocholesterol to cholesterol, the final step of cholesterol synthesis in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol reductase (DHCR7). Homozygous or compound heterozygous mutations in DHCR7 lead to the developmental disease Smith-Lemli-Opitz syndrome, which can also result in fetal mortality, highlighting the importance of this enzyme in human development and survival. Besides serving as a substrate for DHCR7, 7-dehydrocholesterol is also a precursor of vitamin D via the action of ultraviolet light on the skin...
October 2016: Progress in Lipid Research
https://www.readbyqxmd.com/read/27526097/intracranial-undifferentiated-malign-neuroglial-tumor-in-smith-lemli-opitz-syndrome-a-theory-of-a-possible-predisposing-factor-for-primary-brain-tumors-via-a-case-report
#13
Ayfer Aslan, Alp Ozgun Borcek, Selma Pamukcuoglu, M Kemali Baykaner
BACKGROUND: Smith-Lemli-Opitz Syndrome (SLOS) is a rare hereditary autosomal recessive disorder with broken cholesterol synthesis causing by 7-dehydrocholesterol reductase deficiency. Although the clinical features and pathogenesis is well-defined, it is unknown whether there is a relationship between SLOS and neoplastic processes, especially brain neoplasms. PURPOSE: We aimed to attract the attentions to any possibility of relation between SLOS and intracranial tumor development via a pediatric case with both intracranial high-grade neuroglial tumor and SLOS, and thus to contribute an additional data to the literature on togetherness of these two clinical conditions...
January 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27520299/phosphorylation-regulates-activity-of-7-dehydrocholesterol-reductase-dhcr7-a-terminal-enzyme-of-cholesterol-synthesis
#14
Anika V Prabhu, Winnie Luu, Laura J Sharpe, Andrew J Brown
Cholesterol is essential for survival, but too much or too little can cause disease. Thus, cholesterol levels must be kept within close margins. 7-dehydrocholesterol reductase (DHCR7) is a terminal enzyme of cholesterol synthesis, and is essential for embryonic development. Largely, DHCR7 research is associated with the developmental disease Smith-Lemli-Opitz syndrome, which is caused by mutations in the DHCR7 gene. However, little is known about what regulates DHCR7 activity. Here we provide evidence that phosphorylation plays a role in controlling DHCR7 activity, which may provide a means to divert flux from cholesterol synthesis to vitamin D production...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27513191/a-placebo-controlled-trial-of-simvastatin-therapy-in-smith-lemli-opitz-syndrome
#15
Christopher A Wassif, Lisa Kratz, Susan E Sparks, Courtney Wheeler, Simona Bianconi, Andrea Gropman, Karim A Calis, Richard I Kelley, Elaine Tierney, Forbes D Porter
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/cognitive impairment syndrome characterized by the accumulation of 7-dehydrocholesterol, a precursor sterol of cholesterol. Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor that crosses the blood-brain barrier, has been proposed for the treatment of SLOS based on in vitro and in vivo studies suggesting that simvastatin increases the expression of hypomorphic DHCR7 alleles. METHODS: Safety and efficacy of simvastatin therapy in 23 patients with mild to typical SLOS were evaluated in a randomized, double-blind, placebo-controlled trial...
March 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27401223/investigation-of-7-dehydrocholesterol-reductase-pathway-to-elucidate-off-target-prenatal-effects-of-pharmaceuticals-a-systematic-review
#16
REVIEW
M R Boland, N P Tatonetti
Mendelian diseases contain important biological information regarding developmental effects of gene mutations that can guide drug discovery and toxicity efforts. In this review, we focus on Smith-Lemli-Opitz syndrome (SLOS), a rare Mendelian disease characterized by compound heterozygous mutations in 7-dehydrocholesterol reductase (DHCR7) resulting in severe fetal deformities. We present a compilation of SLOS-inducing DHCR7 mutations and the geographic distribution of those mutations in healthy and diseased populations...
October 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27393412/antenatal-manifestations-of-inborn-errors-of-metabolism-biological-diagnosis
#17
Christine Vianey-Saban, Cécile Acquaviva, David Cheillan, Sophie Collardeau-Frachon, Laurent Guibaud, Cécile Pagan, Magali Pettazzoni, Monique Piraud, Antonin Lamazière, Roseline Froissart
Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopathies, congenital disorders of glycosylation (CDGs), and transaldolase deficiency. Their biological investigation requires fetal material. The supernatant of amniotic fluid (AF) is useful for the analysis of mucopolysaccharides, oligosaccharides, sialic acid, lysosphingolipids and some enzyme activities for LSDs, 7- and 8-dehydrocholesterol, desmosterol and lathosterol for CSDs, acylcarnitines for FAODs, organic acids for organic acidurias, and polyols for transaldolase deficiency...
September 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27334845/7-dehydrocholesterol-efficiently-supports-ret-signaling-in-a-mouse-model-of-smith-opitz-lemli-syndrome
#18
Myriam Gou-Fàbregas, Anna Macià, Carlos Anerillas, Marta Vaquero, Mariona Jové, Sanjay Jain, Joan Ribera, Mario Encinas
Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of cholesterol synthesis. Affected individuals exhibit growth failure, intellectual disability and a broad spectrum of developmental malformations. Among them, renal agenesis or hypoplasia, decreased innervation of the gut, and ptosis are consistent with impaired Ret signaling. Ret is a receptor tyrosine kinase that achieves full activity when recruited to lipid rafts. Mice mutant for Ret are born with no kidneys and enteric neurons, and display sympathetic nervous system defects causing ptosis...
June 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27315086/7dhc-induced-changes-of-kv1-3-operation-contributes-to-modified-t-cell-function-in-smith-lemli-opitz-syndrome
#19
András Balajthy, Sándor Somodi, Zoltán Pethő, Mária Péter, Zoltán Varga, Gabriella P Szabó, György Paragh, László Vígh, György Panyi, Péter Hajdu
In vitro manipulation of membrane sterol level affects the regulation of ion channels and consequently certain cellular functions; however, a comprehensive study that confirms the pathophysiological significance of these results is missing. The malfunction of 7-dehydrocholesterol (7DHC) reductase in Smith-Lemli-Opitz syndrome (SLOS) leads to the elevation of the 7-dehydrocholesterol level in the plasma membrane. T lymphocytes were isolated from SLOS patients to assess the effect of the in vivo altered membrane sterol composition on the operation of the voltage-gated Kv1...
August 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27306473/smith-lemli-opitz-syndrome-a-challenging-prenatal-diagnosis
#20
Agata Szpera-Goździewicz, Mariola Ropacka-Lesiak, Paweł Rzymski, Grzegorz H Bręborowicz
The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them...
2016: Ginekologia Polska
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