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Books on the topic 'Mutation spectra'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Durot-Boucé, Elizabeth. Spectres des Lumières: Du frissonnement au frisson : mutations gothiques du XVIIIe au XXIe siècle. Publibook, 2008.

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2

Miller, Walter M. Canticle for Leibowitz (Bantam Spectra Book). Turtleback Books Distributed by Demco Media, 1997.

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3

Miller, Walter M. A Canticle for Leibowitz (Bantam Spectra Book). Spectra, 1997.

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4

Vester, Udo, and Stefanie Weber. Renal coloboma syndrome. Edited by Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0360.

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Renal coloboma syndrome is characterized by hypodysplasia of the kidneys and optic never anomalies. Dominant mutations in the paired box PAX2 gene have been defined as the underlying cause. Paired box proteins are important proteins involved in early organogenesis and PAX2 is highly expressed in the kidney, eye, and ear. This pattern of expression explains the spectrum of anomalies observed in RCS patients. The phenotypic variability of mutation carriers is high but ocular anomalies are detectable in almost all affected individuals. In some patients hearing impairment is observed. End-stage re

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5

Menon, Deepa U. Autism and Intellectual Disabilities. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0053.

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PTEN (phosphatase and tensin homologue) on chromosome 10q23.3 is a tumor suppressor gene that encodes for a dual specificity phosphatase that regulates the phosphatidylinositol 3- kinase pathway and has an important role in brain development by affecting neuronal survival, neurite outgrowth, synaptic plasticity, and learning memory. Germline mutations of the PTEN gene have been implicated in a group of related tumor syndromes with autosomal dominant inheritance and variable expression and include the Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Juvenile Polyposis s

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6

Powell, Craig M. SHANK Gene Family and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0011.

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SHANK3 deletion/mutation is an independently replicated, genetic cause of autism (Durand et al., 2007; Gauthier et al., 2009; Moessner et al., 2007) and is the major causative gene in the 22q13 deletion syndrome known as Phelan-McDermid syndrome (Bonaglia et al., 2011; Bonaglia et al., 2001; Bonaglia et al., 2006; Chen et al., 2011; Delahaye et al., 2009; Dhar et al., 2010; Jeffries et al., 2005; Misceo et al., 2011; Sarasua et al., 2011; Wilson et al., 2003). Patients with Phelan-McDermid syndrome uniformly have delayed or absent speech and many carry the diagnosis of autism spectrum disorder

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7

Smith-Hicks, C. L., and S. Naidu. Rett Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0054.

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Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with

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8

Paylor, Richard, Alexia M. Thomas, Surabi Veeraragavan, and Corinne M. Spencer. Putting Into Perspective the Use of the Fmr1 Knockout Mouse as a Model for Autism Spectrum Disorder. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0007.

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Chapter 7 is concerned with the presence of autism spectrum disorder (ASD) in individuals with Fragile X Syndrome (FXS). It is estimated that 21–50% of individuals with FXS meet the criteria for autism or autism with pervasive developmental delay not otherwise specified. Importantly, recent findings indicate that approximately 2–6% of individuals with ASDs have a mutation in the FMR1 gene, making it one of the most significant single genes associated with the presence of ASD.

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9

Lee, Ryan W. Smith-Lemli-Opitz Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0078.

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Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.

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10

Williams, Richard O., and Jeffrey Freed. The Spectrum of Twice Exceptional and Autistic Learners and Suggestions for Their Learning Styles. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190645472.003.0014.

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This chapter compares the exceptionalities and learning disabilities found in twice exceptional (2e) learners with those of learners on the autistic spectrum who have identifiable autistic traits but not an autistic spectrum disorder diagnosis. Many autistic learners have similar exceptionalities to 2e learners, and the chapter presents genetic and neuroscience evidence to support the claim. It argues that many of the learning disabilities for each group result from unusual and exceptional sensory processing issues. In many cases hypersensitivity of the senses causes behavioral issues for the

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11

Bosch, Annet M., and Elaine Murphy. Galactosemia. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0002.

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There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive. Acute symptoms resolve when lactose is excluded from the diet, but long-term complications are frequent and include neurocognitive and social difficulties, speech and language problems, motor problems, and premature ovarian insufficiency. Patients with galactokinase

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12

Sedel, Frédéric. Niemann-Pick Disease Type C. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0053.

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Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease characterized prominently by psychiatric disorders, cerebellar ataxia, cognitive decline, and vertical supran

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13

Beattie, R. Mark, Anil Dhawan, and John W.L. Puntis. Cystic fibrosis-associated liver disease. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0022.

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Pathophysiology 162Clinical features 162Diagnosis 163Management 164Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) (see Chapter 21). CFTR functions as a transmembrane chloride channel in the apical membrane of most secretory epithelia and the disease thus affects lungs, pancreas, exocrine glands, gut, and liver. In CF-associated liver disease the biliary tract is most commonly involved in a spectrum from asymptomatic to biliary cirrhosis. The liver disease runs from mild and su

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14

Ng, Dominic S. Familial Lecithin Cholesterol Acyl Transferase Deficiency Syndromes. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0034.

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Lecithin cholesterol ester transferase (LCAT) is the sole enzyme in the circulation that mediates the esterification of free cholesterol (FC) to cholesterol ester (CE) in lipoproteins. Mutations in the LCAT gene result in one of two clinical syndromes: complete LCAT deficiency syndrome, and “fish eye disease.” The former is characterized by a broad spectrum of clinical features, including profound high-density lipoprotein (HDL) deficiency, hypertriglyceridemia, corneal opacities, anemia, neuropathies, and nephropathy. In contrast, fish eye disease patients develop severe HDL deficiency and sev

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15

Budimirovic, Dejan B., and Megha Subramanian. Neurobiology of Autism and Intellectual Disability. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0052.

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Fragile X syndrome (FXS) is a neurodevelopmental disorder that manifests with a range of cognitive, behavioral, and social impairments. It is a monogenetic disease caused by silencing of the FMR1 gene, in contrast to autism spectrum disorder (ASD) that is a behaviorally-defined set of complex disorders. Because ASD is a major and growing public health concern, current research is focused on identifying common therapeutic targets among patients with different molecular etiologies. Due to the prevalence of ASD in FXS and its shared neurophysiology with ASD, FXS has been extensively studied as a

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16

Eisen, Tim. The patient with renal cell cancer. Edited by Giuseppe Remuzzi. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0172.

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Renal cancer is the commonest malignancy of the kidney and worldwide, accounts for between 2% and 3% of the total cancer burden. The mainstay of curative treatment remains surgery. There have been significant advances in surgical technique, the most important ones being nephron-sparing surgery and laparoscopic nephrectomy. The medical treatment of advanced renal cell cancer has only improved markedly in the last decade with the development of antiangiogenic tyrosine-kinase inhibitors, inhibitors of mammalian target of rapamycin, and a diminished role for immunotherapy.Tyrosine-kinase inhibitor

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17

Grant, Warren, and Martin Scott-Brown. Principles of oncogenesis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0322.

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It is obvious that the process of developing cancer—oncogenesis—is a multistep process. We know that smoking, obesity, and a family history are strong independent predictors of developing malignancy; yet, in clinics, we often see that some heavy smokers live into their nineties and that some people with close relatives affected by cancer spend many years worrying about a disease that, in the end, they never contract. For many centuries scientists have struggled to understand the process that make cancer cells different from normal cells. There were those in ancient times who believed that tumo

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