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https://www.readbyqxmd.com/read/29454001/brain-bioenergetics-in-rats-with-acute-hyperphenylalaninemia
#1
Nádia Weber Dimer, Bruna Klippel Ferreira, Jotele Fontana Agostini, Maria Luiza Gomes, Luiza Wilges Kist, Fernanda Malgarin, Milena Carvalho-Silva, Lara Mezari Gomes, Joyce Rebelo, Marisa Jádna Silva Frederico, Fátima Regina Mena Barreto Silva, Eduardo Pacheco Rico, Mauricio Reis Bogo, Emilio Luiz Streck, Gustavo Costa Ferreira, Patrícia Fernanda Schuck
Phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism caused by deficient phenylalanine hydroxylase activity. The deficiency results in increased levels of Phe and its metabolites in fluids and tissues of patients. PKU patients present neurological signals and symptoms including hypomyelination and intellectual deficit. This study assessed brain bioenergetics at 1 h after acute Phe administration to induce hyperphenylalaninemia (HPA) in rats. Wistar rats were randomized in two groups: HPA animals received a single subcutaneous administration of Phe (5...
February 14, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29452463/autosomal-dominant-mannose-binding-lectin-deficiency-is-associated-with-worse-neurodevelopmental-outcomes-after-cardiac-surgery-in-infants
#2
Daniel Seung Kim, Yatong K Li, Jerry H Kim, Curtis S Bergquist, Marsha Gerdes, Judy C Bernbaum, Nancy Burnham, Donna M McDonald-McGinn, Elaine H Zackai, Susan C Nicolson, Thomas L Spray, Deborah A Nickerson, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
OBJECTIVES: The MBL2 gene is the major genetic determinant of mannose-binding lectin (MBL)-an acute phase reactant. Low MBL levels have been associated with adverse outcomes in preterm infants. The MBL2 Gly54Asp missense variant causes autosomal dominant MBL deficiency. We tested the hypothesis that MBL2 Gly54Asp is associated with worse neurodevelopmental outcomes after cardiac surgery in neonates. METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295)...
March 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29444765/early-infancy-onset-stimulation-induced-myoclonic-seizures-in-three-siblings-with-inherited-glycosylphosphatidylinositol-gpi-anchor-deficiency
#3
Yukiko Mogami, Yasuhiro Suzuki, Yoshiko Murakami, Tae Ikeda, Sadami Kimura, Keiko Yanagihara, Nobuhiko Okamoto, Taroh Kinoshita
Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidylinositol anchor deficiency with PIGL gene mutations. The phenotypes of the subjects were not consistent with CHIME syndrome or Mabry syndrome, as reported in previous studies. All shared some clinical manifestations, including transient apnoea as neonates, dysmorphic facial features, and intellectual disability...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29435807/treatment-outcome-of-creatine-transporter-deficiency-international-retrospective-cohort-study
#4
Theodora U J Bruun, Sarah Sidky, Anabela O Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S Salomons, Saadet Mercimek-Andrews
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
February 12, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29430868/a-novel-homozygous-ap4b1-mutation-in-two-brothers-with-ap-4-deficiency-syndrome-and-ocular-anomalies
#5
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour
Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype...
February 12, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29421601/novel-contiguous-gene-deletion-in-peruvian-girl-with-trichothiodystrophy-type-4-and-glutaric-aciduria-type-3
#6
Jorge La Serna-Infantes, Miguel Chávez Pastor, Milana Trubnykova, Félix Chavesta Velásquez, Flor Vásquez Sotomayor, Hugo Abarca Barriga
Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and short stature, caused by a homozygous mutation in MPLKIP gene. Glutaric aciduria type 3 is caused by a homozygous mutation in SUGCT gene with no distinctive phenotype. Both genes are localized on chromosome 7 (7p14). We report an 8-year-old female with short stature, microcephaly, development delay, intellectual disability and hair characterized for dark, short, coarse, sparse and brittle associated to classical trichorrhexis microscopy pattern...
February 5, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29419336/case-report-of-four-siblings-in-southeast-turkey-with-a-novel-rab3gap2-splice-site-mutation-warburg-micro-syndrome-or-martsolf-syndrome
#7
Evren Gumus
BACKGROUND: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations. The RAB3GAP2 gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones...
February 8, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29416789/significance-of-cyclin-d1-overexpression-in-progression-and-radio-resistance-of-pediatric-ependymomas
#8
Muh-Lii Liang, Tsung-Han Hsieh, Yun-Ru Liu, Yi-Wei Chen, Yi-Yen Lee, Feng-Chi Chang, Shih-Chieh Lin, Ming-Chao Huang, Ho Donald Ming-Tak, Tai-Tong Wong, Yun Yen, Muh-Hwa Yang
Due to the limited efficacy of chemotherapy, the applications of adjuvant irradiation play an important role for ependymoma treatment. However, in the young ages, the resistance of residual and recurrent tumor, and long-term intellectual sequelae remain the major obstacles of radiotherapy. Understanding the mechanism of therapeutic failure caused by radio-resistance is, therefore, crucial in ependymoma treatment. Here we retrospectively analyze clinic-pathological factors in 82 cases of ependymoma less than 20 years old and identify radio-resistant genes through gene expression microarray followed by qRT-PCR validation and immunohistochemistry staining...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29410510/mitochondrial-involvement-in-a-bosch-boonstra-schaaf-optic-atrophy-syndrome-patient-with-a-novel-de-novo-nr2f1-gene-mutation
#9
Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Marcello Bellusci, Christian P Schaaf, Francisco Martínez-Azorín
We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing (WES) uncovered a novel heterozygous mutation in the NR2F1 gene (NM_005654:c.286A>G:p.Lys96Glu) that encodes for the COUP transcription factor 1 protein (COUP-TF1)...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29397238/hereditary-swi-snf-complex-deficiency-syndromes
#10
REVIEW
Abbas Agaimy, William D Foulkes
The SWItch Sucrose non-fermentable (SWI/SNF) complex is a highly conserved multi-subunit complex of proteins encoded by numerous genes mapped to different chromosomal regions. The complex regulates the process of chromatin remodelling and hence plays a central role in the epigenetic regulation of gene expression, cell proliferation and differentiation. During the last three decades, the SWI/SNF complex has been increasingly recognized as a central molecular event driving the initiation and/or progression of several benign and malignant neoplasms of different anatomic origin and having diverse histomorphological appearance...
January 31, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29395884/-changes-in-clinical-practice-related-to-the-arrival-of-next-generation-sequencing-in-the-genetic-diagnosis-of-developmental-diseases
#11
L Demougeot, F Houdayer, A Pélissier, F Mohrez, J Thevenon, Y Duffourd, S Nambot, E Gautier, C Binquet, M Rossi, D Sanlaville, S Béjean, C Peyron, C Thauvin-Robinet, L Faivre
INTRODUCTION: The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. METHODS: Geneticists attending a clinical genetics seminar were invited to complete a questionnaire...
January 27, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29388522/vitamin-d-in-patients-with-intellectual-and-developmental-disability-in-secure-in-patient-services-in-the-north-of-england-uk
#12
Iain McKinnon, Thomas Lewis, Naomi Mehta, Shahed Imrit, Julie Thorp, Chris Ince
Aims and method To assess the benefits of the introduction of routine vitamin D serum sampling for all patients admitted to a secure in-patient hospital in the North of England providing medium security, low security and rehabilitation services for offenders with intellectual and developmental disability. The vitamin D levels of 100 patients were analysed at baseline. Those with insufficient or deficient levels were offered treatment and retested after 1 year. Vitamin D levels were analysed in the context of level of security, seasonality of test and co-prescription of psychotropic medications...
February 2018: BJPsych Bulletin
https://www.readbyqxmd.com/read/29379881/biallelic-chp1-mutation-causes-human-autosomal-recessive-ataxia-by-impairing-nhe1-function
#13
Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth
Objective: To ascertain the genetic and functional basis of complex autosomal recessive cerebellar ataxia (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, and slow ocular saccades. Methods: Combined whole-genome linkage analysis, whole-exome sequencing, and focused screening for identification of potential causative genes were performed. Assessment of the functional consequences of the mutation on protein function via subcellular fractionation, size-exclusion chromatography, and fluorescence microscopy were done...
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29377611/developmental-social-communication-deficits-in-the-shank3-rat-model-of-phelan-mcdermid-syndrome-and-autism-spectrum-disorder
#14
Elizabeth L Berg, Nycole A Copping, Josef K Rivera, Michael C Pride, Milo Careaga, Melissa D Bauman, Robert F Berman, Pamela J Lein, Hala Harony-Nicolas, Joseph D Buxbaum, Jacob Ellegood, Jason P Lerch, Markus Wöhr, Jill L Silverman
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats...
January 29, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29375865/clinical-whole-exome-sequencing-from-dried-blood-spot-identifies-novel-genetic-defect-underlying-asparagine-synthetase-deficiency
#15
Avinash Abhyankar, Michelle Lamendola-Essel, Kelly Brennan, Jessica L Giordano, Cecilia Esteves, Vanessa Felice, Ronald Wapner, Vaidehi Jobanputra
We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood spot can be a valuable option when no biological samples are available from a deceased child.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29362445/abnormal-behaviours-relevant-to-neurodevelopmental-disorders-in-kirrel3-knockout-mice
#16
Tomoko Hisaoka, Tadasuke Komori, Toshio Kitamura, Yoshihiro Morikawa
In the nervous system, Kirrel3 is involved in neuronal migration, axonal fasciculation, and synapse formation. Recently, genetic links have been reported between mutations in the KIRREL3 gene and increased risk of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability. To elucidate the causal relationship between KIRREL3 deficiency and behavioural abnormalities relevant to neurodevelopmental disorders, we generated global Kirrel3-knockout (Kirrel3-/-) mice and investigated the detailed behavioural phenotypes...
January 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343166/consensus-statement-of-the-international-summit-on-intellectual-disability-and-dementia-on-valuing-the-perspectives-of-persons-with-intellectual-disability
#17
Karen Watchman, Matthew P Janicki, Leslie Udell, Mary Hogan, Sam Quinn, Anna Beránková
The International Summit on Intellectual Disability and Dementia covered a range of issues related to dementia and intellectual disability, including the dearth of personal reflections of persons with intellectual disability affected by dementia. This article reflects on this deficiency and explores some of the personal perspectives gleaned from the literature, from the Summit attendees and from the experiences of persons with intellectual disability recorded or scribed in advance of the two-day Summit meeting...
January 1, 2018: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#18
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#19
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#20
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
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