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https://www.readbyqxmd.com/read/30107533/syt1-associated-neurodevelopmental-disorder-a-case-series
#1
Kate Baker, Sarah L Gordon, Holly Melland, Fabian Bumbak, Daniel J Scott, Tess J Jiang, David Owen, Bradley J Turner, Stewart G Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia M S Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A Gibbs, Sara Ellingwood, Michelle Amaral, Whitley Kelley, Manju A Kurian, Michael A Cousin, F Lucy Raymond
Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368 (I368T) and Asn371 (N371K). Phenotypic features include infantile hypotonia, congenital ophthalmic abnormalities, childhood-onset hyperkinetic movement disorders, motor stereotypies, and developmental delay varying in severity from moderate to profound...
August 13, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30105119/a-case-of-shwachman-diamond-syndrome-who-presented-with-hypotonia
#2
Zeren Barış, Figen Özçay, Lale Olcay, Serdar Ceylaner, Taner Sezer
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic deficiency, bone marrow dysfunction with increased risk for malignant transformation, and skeletal abnormalities. It should be included in differential diagnosis of patients with failure to thrive and unexplained neurodevelopmental delay with neutropenia...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30102473/clinical-and-molecular-evaluation-of-16-patients-with-rett-syndrome
#3
Pınar Zengin-Akkuş, Ekim Z Taşkıran, Serkan Kabaçam, Pelin Özlem Şimşek-Kiper, Göknur Haliloğlu, Koray Boduroğlu, Gülen Eda Utine
Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE. Clinical and molecular evaluation of 16 patients with Rett syndrome. Turk J Pediatr 2018; 60: 1-9. Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2. The disease is characterized by early neurological regression following a normal initial development. The diagnosis is a clinical one, based on major and minor diagnostic criteria. This study, in a group of patients from a single tertiary center, aimed to evaluate the efficiency of clinical diagnosis and to see if there was a diagnostic delay...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30098288/prediction-of-postnatal-developmental-disabilities-using-the-antenatal-fetal-neurodevelopmental-test-kanet-assessment
#4
Toshiyuki Hata, Kenji Kanenishi, Nobuhiro Mori, Mohamed Ahmed Mostafa AboEllail, Uiko Hanaoka, Kosuke Koyano, Ikuko Kato, Takashi Kusaka
Objective To assess the usefulness of the antenatal fetal neurodevelopmental test for the prediction of postnatal developmental disabilities. Methods Fetal behavior was assessed with Kurjak's antenatal neurodevelopmental test (KANET) using four-dimensional ultrasound between 28 and 38 weeks of gestation. A score range of 0-5 was characterized as abnormal, from 6 to 9 was considered borderline, and 10-16 was normal. After birth, follow-up was conducted for at least 2 years in all fetuses. Results There were 337 normal (95...
August 11, 2018: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/30089515/a-prospective-natural-history-study-of-krabbe-disease-in-a-patient-cohort-with-onset-between-6-months-and-3-years-of-life
#5
Nicholas Bascou, Anthony DeRenzo, Michele D Poe, Maria L Escolar
BACKGROUND: Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in the lysosomal enzyme galactocerebrosidase. Patients with Krabbe disease present with a variable disease course depending on their age of onset. The purpose of this prospective cohort study was to characterize the natural progression of Krabbe disease in a large group of patients with disease onset between 6 and 36 months of life who were evaluated with a standardized protocol. METHODS: All patients with Krabbe disease who had onset between 6 and 36 months of age and were prospectively evaluated between 2000 to 2017 were included...
August 9, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30079490/mutations-in-wdr4-as-a-new-cause-of-galloway-mowat-syndrome
#6
Daniela A Braun, Shirlee Shril, Aditi Sinha, Ronen Schneider, Weizhen Tan, Shazia Ashraf, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Ankana Daga, Jillian K Warejko, Makiko Nakayama, David Schapiro, Jing Chen, Merlin Airik, Jia Rao, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Hannah Hugo, Jitendra Meena, Monkol Lek, Kristen M Laricchia, Arvind Bagga, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family with GAMOS. Applying established criteria for variant filtering, we identify a novel homozygous splice site mutation in the gene WDR4 as the likely disease-causing mutation in this family...
August 6, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30076746/a-rare-exonic-nrxn3-deletion-segregating-with-neurodevelopmental-and-neuropsychiatric-conditions-in-a-three-generation-chinese-family
#7
Haiming Yuan, Qingming Wang, Yanhui Liu, Wei Yang, Yi He, James F Gusella, Jiage Song, Yiping Shen
Members of the neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3) encode important components of synaptic function implicated in autism and other neurodevelopmental/neuropsychiatric disorders. Loss of function variants have been reported predominantly in NRXN1, with fewer such variants detected in NRXN2 and NRXN3. Evidence for segregating NRNX3 variants has particularly been lacking. Here, we report identification by chromosomal microarray analysis of a rare exonic deletion affecting the NRXN3 alpha isoform in a three-generation Chinese family...
August 4, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30072575/neurodevelopment-after-perinatal-arterial-ischemic-stroke
#8
Nienke Wagenaar, Miriam Martinez-Biarge, Niek E van der Aa, Ingrid C van Haastert, Floris Groenendaal, Manon J N L Benders, Frances M Cowan, Linda S de Vries
BACKGROUND AND OBJECTIVES: Perinatal arterial ischemic stroke (PAIS) leads to cerebral palsy in ∼30% of affected children and has other neurologic sequelae. Authors of most outcome studies focus on middle cerebral artery (MCA) stroke without differentiating between site and extent of affected tissue. Our aim with this study was to report outcomes after different PAIS subtypes. METHODS: Between 1990 and 2015, 188 term infants from 2 centers (London [ n = 79] and Utrecht [ n = 109]) had PAIS on their neonatal MRI...
August 2, 2018: Pediatrics
https://www.readbyqxmd.com/read/30057031/irf2bpl-is-associated-with-neurological-phenotypes
#9
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Patricia I Dickson, Henry J Lin, Moin U Vera, Noriko Salamon, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C Smith, Joan Jasien, Sujay Kansagra, Gail Spiridigliozzi, Mays El-Dairi, Robert Lark, Kacie Riley, Dwight D Koeberl, Katie Golden-Grant, Shinya Yamamoto, Michael F Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F Nelson, David B Goldstein, Hugo J Bellen, Loren D M Pena
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination...
August 2, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30057029/de-novo-variants-in-the-f-box-protein-fbxo11-in-20-individuals-with-a-variable-neurodevelopmental-disorder
#10
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M A Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B Santani, Ajoy Sarkar, Ingrid E Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D Symonds, Elaine H Zackai, André Reis, Heinrich Sticht, Christiane Zweier
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or bifid uvula (3/20), and minor skeletal anomalies...
August 2, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30055032/a-recognizable-phenotype-related-to-19p13-12-microdeletion
#11
Laiara Cristina de Souza, Ilária Cristina Sgardioli, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Submicroscopic deletions in chromosome 19 have been rarely reported. We reported a male patient presenting with neurodevelopmental delay and facial dysmorphisms with a de novo 19p13.11p13.12 deletion of approximately 1.4 Mb. To date, there are seven cases with deletions overlapping the 19p13.11-p13.12 region described in the literature. A region of 800 kb for branchial arch defects in the proximal region of 19p13.12, and another minimal critical region of 305 kb for hypertrichosis, synophrys, and protruding front teeth have been proposed previously...
July 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30054502/beyond-autophagy-a-novel-role-for-autism-linked-wdfy3-in-brain-mitophagy
#12
Eleonora Napoli, Gyu Song, Alexios Panoutsopoulos, M Asrafuzzaman Riyadh, Gaurav Kaushik, Julian Halmai, Richard Levenson, Konstantinos S Zarbalis, Cecilia Giulivi
WD repeat and FYVE domain-containing 3 (WDFY3; also known as Autophagy-Linked FYVE or Alfy) is an identified intellectual disability, developmental delay and autism risk gene. This gene encodes for a scaffolding protein that is expressed in both the developing and adult central nervous system and required for autophagy and aggrephagy with yet unexplored roles in mitophagy. Given that mitochondrial trafficking, dynamics and remodeling have key roles in synaptic plasticity, we tested the role of Wdfy3 on brain bioenergetics by using Wdfy3+/lacZ mice, the only known Wdfy3 mutant animal model with overt neurodevelopmental anomalies that survive to adulthood...
July 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30040823/genes-regulated-by-satb2-during-neurodevelopment-contribute-to-schizophrenia-and-educational-attainment
#13
Laura Whitton, Galina Apostolova, Dietmar Rieder, Georg Dechant, Stephen Rea, Gary Donohoe, Derek W Morris
SATB2 is associated with schizophrenia and is an important transcription factor regulating neocortical organization and circuitry. Rare mutations in SATB2 cause a syndrome that includes developmental delay, and mouse studies identify an important role for SATB2 in learning and memory. Interacting partners BCL11B and GATAD2A are also schizophrenia risk genes indicating that other genes interacting with or are regulated by SATB2 are making a contribution to schizophrenia and cognition. We used data from Satb2 mouse models to generate three gene-sets that contain genes either functionally related to SATB2 or targeted by SATB2 at different stages of development...
July 24, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/30039193/clinical-and-molecular-characteristics-of-mitochondrial-dysfunction-in-autism-spectrum-disorder
#14
REVIEW
Shannon Rose, Dmitriy M Niyazov, Daniel A Rossignol, Michael Goldenthal, Stephen G Kahler, Richard E Frye
Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology of ASD likely involves environmental factors triggering physiological abnormalities in genetically sensitive individuals. One of these major physiological abnormalities is mitochondrial dysfunction, which may affect a significant subset of children with ASD. Here we systematically review the literature on human studies of mitochondrial dysfunction related to ASD. Clinical aspects of mitochondrial dysfunction in ASD include unusual neurodevelopmental regression, especially if triggered by an inflammatory event, gastrointestinal symptoms, seizures, motor delays, fatigue and lethargy...
July 23, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/30037831/estrogen-treatment-reverses-prematurity-induced-disruption-in-cortical-interneuron-population
#15
Sanjeet Panda, Preeti Dohare, Samhita Jain, Nirzar Parikh, Pranav Singla, Rana Mehdizadeh, Damon W Klebe, George M Kleinman, Bokun Cheng, Praveen Ballabh
Development of cortical interneurons continues until the end of human pregnancy. Premature birth deprives the newborns from the supply of maternal estrogen and a secure intrauterine environment. Indeed, preterm infants suffer from neurobehavioral disorders. This can result from both preterm birth and associated postnatal complications, which might disrupt recruitment and maturation of cortical interneurons. We hypothesized that interneuron subtypes, including parvalbumin+ , somatostatin+ , calretinin+ , and neuropeptide-Y+ interneurons, were recruited in the upper and lower cortical layers in a distinct manner with advancing gestational age...
July 23, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/30032983/mutations-in-lnpk-encoding-the-endoplasmic-reticulum-junction-stabilizer-lunapark-cause-a-recessive-neurodevelopmental-syndrome
#16
Martin W Breuss, An Nguyen, Qiong Song, Thai Nguyen, Valentina Stanley, Kiely N James, Damir Musaev, Guoliang Chai, Sara A Wirth, Paula Anzenberg, Renee D George, Anide Johansen, Shaila Ali, Muhammad Zia-Ur-Rehman, Tipu Sultan, Maha S Zaki, Joseph G Gleeson
The dynamic shape of the endoplasmic reticulum (ER) is a reflection of its wide variety of critical cell biological functions. Consequently, perturbation of ER-shaping proteins can cause a range of human phenotypes. Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which is proposed to serve as a curvature-stabilizing protein within tubular three-way junctions of the ER...
August 2, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30030683/moderate-neonatal-hypoglycemia-and-adverse-neurological-development-at-2-6-years-of-age
#17
Ronny Wickström, Beatrice Skiöld, Gunnar Petersson, Olof Stephansson, Maria Altman
To determine whether moderate neonatal hypoglycemia in otherwise healthy infants is associated with adverse neurodevelopmental outcome in pre-school children. Population-based cohort study with prospectively collected register data from Sweden. All singletons born July 1st 2008 through December 31st 2012 (n = 101,060) in the region were included. Infants with congenital malformations, infants treated in neonatal intensive care unit, infants with inborn errors of metabolism and infants to mothers with diabetes were excluded...
July 20, 2018: European Journal of Epidemiology
https://www.readbyqxmd.com/read/30028311/the-impact-of-hypoxic-ischemic-brain-injury-on-stem-cell-mobilization-migration-adhesion-and-proliferation
#18
REVIEW
Stephanie M Parry, Eric S Peeples
Neonatal hypoxic-ischemic encephalopathy continues to be a significant cause of death or neurodevelopmental delays despite standard use of therapeutic hypothermia. The use of stem cell transplantation has recently emerged as a promising supplemental therapy to further improve the outcomes of infants with hypoxic-ischemic encephalopathy. After the injury, the brain releases several chemical mediators, many of which communicate directly with stem cells to encourage mobilization, migration, cell adhesion and differentiation...
July 2018: Neural Regeneration Research
https://www.readbyqxmd.com/read/30026769/causes-and-factors-associated-with-neonatal-seizure-and-its-short-term-outcome-a-retrospective-prognostic-cohort-study
#19
Hamid Nemati, Parvaneh Karimzadeh, Minoo Fallahi
Objective: Neonatal seizures are common, difficult to diagnose and treat, and associated with a great mortality rate and long-term risk of neurodevelopmental impairments. We aimed to determine the etiology, clinical presentation, and neurodevelopmental outcome of neonatal seizures. Materials and Methods: In this cross-sectional study, 88 neonates, aged < 28 days, admitted to Mofid Children's Hospital, Tehran, Iran, from September 2011 to 2013 with the initial diagnosis of seizure were enrolled by convenient sampling method...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/30018943/the-effects-of-early-stage-neurodevelopmental-treatment-on-the-growth-of-premature-infants-in-neonatal-intensive-care-unit
#20
Eun-Ju Lee, Sang-Yeol Lee
The purpose of this study was to investigate the effects of early-stage neurodevelopmental treatment on the growth of premature infants in the neonatal intensive care unit. A total of 85 premature infants were included in this study. Infants with a birth weight of less than 2.5 kg and of 2.5 kg or higher were classified as premature infants with a high risk of growth delay and with a low risk of growth delay respectively. Of the 55 premature infants with a high risk of growth delay, 27 premature infants were placed in the intervention group and 28 were placed in the control group according to their hospitalization time...
June 2018: Journal of Exercise Rehabilitation
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