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Smith lemli opitz syndrome

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https://www.readbyqxmd.com/read/29770994/syndromes-associated-with-holoprosencephaly
#1
Paul Kruszka, Maximilian Muenke
Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29730299/plasma-oxysterol-profiling-in-children-reveals-24-hydroxycholesterol-as-a-potential-marker-for-autism-spectrum-disorders
#2
S Grayaa, C Zerbinati, M Messedi, I HadjKacem, M Chtourou, D Ben Touhemi, M Naifar, H Ayadi, F Ayedi, L Iuliano
Cholesterol and its oxygenated metabolites, such as oxysterols, are intensively investigated as potential players in the pathophysiology of brain disorder. Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including Alzheimer's disease, Amyotrophic Lateral Sclerosis, Parkinson's disease, X-linked adrenoleukodystrophy, and Smith-Lemli-Opitz Syndrome. Recent studies have shown that Autism Spectrum Disorders are associated with disruption of cholesterol metabolism...
May 3, 2018: Biochimie
https://www.readbyqxmd.com/read/29698737/dichlorophenyl-piperazines-including-a-recently-approved-atypical-antipsychotic-are-potent-inhibitors-of-dhcr7-the-last-enzyme-in-cholesterol-biosynthesis
#3
Thiago C Genaro-Mattos, Keri A Tallman, Luke B Allen, Allison Anderson, Karoly Mirnics, Zeljka Korade, Ned A Porter
While antipsychotic medications provide important relief from debilitating psychotic symptoms, they also have significant adverse side effects, which might have relevant impact on human health. Several research studies, including ours, have shown that commonly used antipsychotics such as haloperidol and aripiprazole affect cholesterol biosynthesis at the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol. This transformation is promoted by the enzyme DHCR7 and its inhibition causes increases in plasma and tissue levels of 7-DHC...
April 23, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29626102/identification-of-unusual-oxysterols-and-bile-acids-with-7-oxo-or-3%C3%AE-5%C3%AE-6%C3%AE-trihydroxy-functions-in-human-plasma-by-charge-tagging-mass-spectrometry-with-multistage-fragmentation
#4
William J Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J Crick, Thomas Hearn, Alison Dickson, Brian W Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A Jones, Yuqin Wang
7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC) and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples, however, in disease their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders e.g. Niemann Pick disease type C, or the inborn errors of sterol metabolism e.g. Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC and 5,6-EC is that they can also be formed ex vivo from cholesterol during sample handling in air causing confusion with molecules formed in vivo...
April 6, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29623569/advances-in-computer-assisted-syndrome-recognition-by-the-example-of-inborn-errors-of-metabolism
#5
Jean T Pantel, Max Zhao, Martin A Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M Krawitz
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra...
April 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29511293/author-correction-prevention-of-retinal-degeneration-in-a-rat-model-of-smith-lemli-opitz-syndrome
#6
Steven J Fliesler, Neal S Peachey, Josi Herron, Kelly M Hines, Nadav I Weinstock, Sriganesh Ramachandra Rao, Libin Xu
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
March 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29459491/steroid-sulfation-pathways-targeted-by-disulfates-determination-application-to-prenatal-diagnosis
#7
Oscar J Pozo, Josep Marcos, Olha Khymenets, Andy Pranata, Christopher Fitzgerald, Malcolm Donald McLeod, Cedric Shackleton
The steroid disulfates (aka bis-sulfates or bis(sulfates)) are a significant but minor fraction of the urinary steroid metabolome that have not been widely studied because major components are not hydrolyzed by the commercial sulfatases commonly used in steroid metabolomics. In early studies, conjugate fractionation followed by hydrolysis using acidified solvent (solvolysis) was used for the indirect detection of this fraction by GC-MS. This paper describes the application of a specific LC-MS/MS method for the direct identification of disulfates in urine, and their use as markers for the prenatal diagnosis of disorders causing reduced estriol production: STSD (Steroid Sulfatase Deficiency), SLOS (Smith-Lemli-Opitz Syndrome) and PORD (P450 Oxido-Reductase Deficiency)...
February 19, 2018: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/29455191/smith-lemli-opitz-syndrome-clinical-and-biochemical-correlates
#8
Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features...
March 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29433144/smith-lemli-opitz-mutations-in-unexplained-stillbirths
#9
Karen J Gibbins, Uma M Reddy, George R Saade, Robert L Goldenberg, Donald J Dudley, Corette B Parker, Vanessa Thorsten, Halit Pinar, Radek Bukowski, Carol J Hogue, Robert M Silver
OBJECTIVE:  Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a defect in cholesterol biosynthesis with mutations in 7-dehydrocholesterol reductase (DHCR7). A total of 3% of Caucasians carry DHCR7 mutations, theoretically resulting in a homozygote frequency of 1/4000. However, SLOS occurs in only 1/20,000 to 60,000 live births. Our objective was to assess DHCR7 mutations in unexplained stillbirths. STUDY DESIGN:  Prospective, multicenter, population-based case-control study of all stillbirths and a representative sample of live births enrolled in five geographic areas...
February 12, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29355488/smith-lemli-opitz-syndrome-in-a-newborn-infant-with-developmental-abnormalities-and-low-endogenous-cholesterol
#10
Yifei Yang, Lindsay Yassan, Edward Ki Yun Leung, Kiang-Teck J Yeo
BACKGROUND: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies. CASE DESCRIPTION: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections...
April 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29352199/prevention-of-retinal-degeneration-in-a-rat-model-of-smith-lemli-opitz-syndrome
#11
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/29300326/computational-investigation-of-the-missense-mutations-in-dhcr7-gene-associated-with-smith-lemli-opitz-syndrome
#12
Yunhui Peng, Rebecca Myers, Wenxing Zhang, Emil Alexov
Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol synthesis disorder characterized by physical, mental, and behavioral symptoms. It is caused by mutations in 7-dehydroxycholesterolreductase gene ( DHCR7 ) encoding DHCR7 protein, which is the rate-limiting enzyme in the cholesterol synthesis pathway. Here we demonstrate that pathogenic mutations in DHCR7 protein are located either within the transmembrane region or are near the ligand-binding site, and are highly conserved among species. In contrast, non-pathogenic mutations observed in the general population are located outside the transmembrane region and have different effects on the conformational dynamics of DHCR7...
January 4, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29227331/unravelling-new-pathways-of-sterol-metabolism-lessons-learned-from-in-born-errors-and-cancer
#13
Yuqin Wang, William J Griffiths
PURPOSE OF REVIEW: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways. RECENT FINDINGS: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals...
March 2018: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29226552/spontaneously-regressing-brain-lesions-in-smith-lemli-opitz-syndrome
#14
An N Dang Do, Eva H Baker, Katherine E Warren, Simona E Bianconi, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28972118/vulnerability-of-dhcr7-mutation-carriers-to-aripiprazole-and-trazodone-exposure
#15
Zeljka Korade, Thiago C Genaro-Mattos, Keri A Tallman, Wei Liu, Krassimira A Garbett, Katalin Koczok, Istvan Balogh, Karoly Mirnics, Ned A Porter
Smith-Lemli-Opitz syndrome is a recessive disorder caused by mutations in 7-dehydrocholesterol reductase (DHCR)7 with a heterozygous (HET) carrier frequency of 1-3%. A defective DHCR7 causes accumulation of 7-dehydrocholesterol (DHC), which is a highly oxidizable and toxic compound. Recent studies suggest that several antipsychotics, including the highly prescribed pharmaceuticals, aripiprazole (ARI) and trazodone (TRZ), increase 7-DHC levels in vitro and in humans. Our investigation was designed to compare the effects of ARI and TRZ on cholesterol (Chol) synthesis in fibroblasts from DHCR7 +/- human carriers and controls (CTRs)...
November 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28891864/photosensitization-of-trpa1-and-trpv1-by-7-dehydrocholesterol-implications-for-the-smith-lemli-opitz-syndrome
#16
Alexandru Babes, Cosmin I Ciotu, Tal Hoffmann, Tatjana I Kichko, Tudor Selescu, Cristian Neacsu, Susanne K Sauer, Peter W Reeh, Michael J M Fischer
Loss-of-function mutations in the enzyme 7-dehydrocholesterol reductase are responsible for the Smith-Lemli-Opitz syndrome, in which 7-dehydrocholesterol (7-DHC) levels are markedly increased in the plasma and tissues of patients. This increase in 7-DHC is probably associated with the painful and itchy photosensitivity reported by the majority of patients with Smith-Lemli-Opitz syndrome. To identify the molecular targets involved in the activation and photosensitization of primary afferents by 7-DHC, we focused on TRPA1 and TRPV1, two ion channels expressed in nociceptive nerve endings and previously shown to respond to ultraviolet and visible light under pathophysiological circumstances...
December 2017: Pain
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#17
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28796426/vitamin-d-levels-in-smith-lemli-opitz-syndrome
#18
Miyad Movassaghi, Simona Bianconi, Richard Feinn, Christopher A Wassif, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by mutations in the 7-dehydrocholesterol reductase gene. This inborn error of cholesterol synthesis leads to elevated concentrations of 7-dehydrocholesterol (7-DHC). 7-DHC also serves as the precursor for vitamin D synthesis. Limited data is available on vitamin D levels in individuals with SLOS. Due to elevated concentrations of 7-DHC, we hypothesized that vitamin D status would be abnormal and possibly reach toxic levels in patients with SLOS...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28719049/pulmonary-vein-stenosis-in-patients-with-smith-lemli-opitz-syndrome
#19
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 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
#20
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
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