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intellectual disease genetics

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https://read.qxmd.com/read/30771457/fragile-x-mental-retardation-protein-positively-regulates-pka-anchor-rugose-and-pka-activity-to-control-actin-assembly-in-learning-memory-circuitry
#1
James C Sears, Woong Jae Choi, Kendal Broadie
Recent work shows Fragile X Mental Retardation Protein (FMRP) drives the translation of very large proteins (>2000 aa) mediating neurodevelopment. Loss of function results in Fragile X syndrome (FXS), the leading heritable cause of intellectual disability (ID) and autism spectrum disorder (ASD). Using the Drosophila FXS disease model, we discover FMRP positively regulates the translation of the very large A-Kinase Anchor Protein (AKAP) Rugose (>3000 aa), homolog of ASD-associated human Neurobeachin (NBEA)...
February 13, 2019: Neurobiology of Disease
https://read.qxmd.com/read/30740406/mitochondrial-disorders
#2
REVIEW
Shibani Kanungo, Jacob Morton, Mekala Neelakantan, Kevin Ching, Jasmine Saeedian, Amy Goldstein
Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may include symptoms of fatigue, skeletal muscle weakness, exercise intolerance, short stature, failure to thrive, blindness, ptosis and ophthalmoplegia, nystagmus, hearing loss, hypoglycemia, diabetes mellitus, learning difficulties, intellectual disability, seizures, stroke-like episodes, spasticity, dystonia, hypotonia, pain, neuropsychiatric symptoms, gastrointestinal reflux, dysmotility, gastrointestinal pseudo-obstruction, cardiomyopathy, cardiac conduction defects, and other endocrine, renal, cardiac, and liver problems...
December 2018: Annals of Translational Medicine
https://read.qxmd.com/read/30718057/the-ability-of-an-lc-ms-ms-based-erythrocyte-galt-enzyme-assay-to-predict-the-phenotype-in-subjects-with-galt-deficiency
#3
Didem Demirbas, Xiaoping Huang, Vikram Daesety, Susan Feenstra, Minela Haskovic, Wanshu Qi, Cynthia S Gubbels, Leah Hecht, Harvey L Levy, Susan E Waisbren, Gerard T Berry
BACKGROUND: GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally. Lactose consumption in the newborn period could potentially lead to a lethal disease process with multi-organ involvement. In contrast to the newborn-stage disease, however, a galactose-restricted diet does not prevent long-term complications such as central nervous system (CNS) dysfunction with speech defects, learning disability and neurological disease in addition to hypergonadotropic hypogonadism or primary ovarian insufficiency (POI) in females...
January 22, 2019: Molecular Genetics and Metabolism
https://read.qxmd.com/read/30706328/identification-of-a-novel-ccdc22-mutation-in-a-patient-with-severe-epstein-barr-virus-associated-hemophagocytic-lymphohistiocytosis-and-aggressive-natural-killer-cell-leukemia
#4
Yusuke Yamashita, Akinori Nishikawa, Yoshifumi Iwahashi, Masakazu Fujimoto, Izumi Sasaki, Hiroyuki Mishima, Akira Kinoshita, Hiroaki Hemmi, Nobuo Kanazawa, Kouichi Ohshima, Ken-Ichi Imadome, Shin-Ichi Murata, Koh-Ichiro Yoshiura, Tsuneyasu Kaisho, Takashi Sonoki, Shinobu Tamura
Aggressive natural killer cell leukemia (ANKL) is a rare neoplasm characterized by the systemic infiltration of Epstein-Barr virus (EBV)-associated NK cells, and rapidly progressive clinical course. We report the case of a 45-year-old man with intellectual disability who developed ANKL, and describe the identification of a novel genetic mutation of coiled-coil domain-containing 22 (CCDC22). He presented with persistent fever, severe pancytopenia, and hepatosplenomegary. Following bone marrow aspiration, numerous hemophagocytes were identified...
January 31, 2019: International Journal of Hematology
https://read.qxmd.com/read/30701556/expanding-the-phenotype-of-phospholipid-remodelling-disease-due-to-mboat7-gene-defect
#5
Dilek Yalnızoǧlu, R Köksal Özgül, Kader K Oǧuz, Buǧra Özer, Didem Yücel-Yılmaz, Berrak Gürbüz, Esra Serdaroǧlu, İlknur Erol, Meral Topçu, Ali Dursun
MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect. The patients present with global developmental delay particularly in speech and language skills, intellectual disability, stereotypical behavior, ataxic gait, early onset epilepsy with well response to medical treatment, strabismus and similar facial features...
December 27, 2018: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30684669/small-interstitial-9p24-3-deletions-principally-involving-kank1-are-likely-benign-copy-number-variants
#6
Mathew J Wallis, Amber Boys, Elisa Tassano, Martin B Delatycki
A small heterozygous deletion involving KANK1 was originally reported in 2005 to cause cerebral palsy in one large Israeli family of Jewish Moroccan origin. There were nine affected children over two generations to five unaffected fathers. All of these children had congenital hypotonia that evolved into spastic quadriplegia over the first year of life, along with intellectual impairment and brain atrophy. The subsequent clinical depictions of other individuals with neurological disease harbouring a comparable KANK1 deletion have been extremely variable and most often quite dissimilar to the original family...
January 23, 2019: European Journal of Medical Genetics
https://read.qxmd.com/read/30683928/a-validated-prom-in-genetic-counselling-the-psychometric-properties-of-the-dutch-version-of-the-genetic-counselling-outcome-scale
#7
Jan S Voorwinden, Mirjam Plantinga, Wim Krijnen, Margreet Ausems, Nine Knoers, Mary Velthuizen, Erwin Birnie, Anneke M Lucassen, Irene M van Langen, Adelita V Ranchor
Patient empowerment has been identified as a key outcome goal in genetic counselling, and a patient reported outcome measure (PROM) has been developed to measure empowerment in genetic services: the Genetic Counselling Outcome Scale (GCOS). Here we validate the GCOS for a large and diverse Dutch study sample of 2194 patients referred to two clinical genetic centres for counselling about a wide range of conditions (heart disease, neurological disorders, cancer, congenital syndromes, intellectual disability and prenatal pathology)...
January 25, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30679813/de-novo-variants-in-fbxo11-cause-a-syndromic-form-of-intellectual-disability-with-behavioral-problems-and-dysmorphisms
#8
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, Alexandra Afenjar, Pankaj B Agrawal, Ilse J Anderson, Paldeep S Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia, Zeynep H Coban-Akdemir, Anke van Dijck, Diane Doummar, Albertien M van Eerde, Anthonie J van Essen, Koen L van Gassen, Maria J Guillen Sacoto, Mieke M van Haelst, Ivan Iossifov, Jessica L Jackson, Elizabeth Judd, Charu Kaiwar, Boris Keren, Eric W Klee, Jolien S Klein Wassink-Ruiter, Marije E Meuwissen, Kristin G Monaghan, Sonja A de Munnik, Caroline Nava, Charlotte W Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R Sanders, Rhonda E Schnur, Eric J Smeets, Alexander P A Stegmann, Asbjørg Stray-Pedersen, David A Sweetser, Paulien A Terhal, Kristian Tveten, Grace E VanNoy, Petra F de Vries, Jessica L Waxler, Marcia Willing, Rolph Pfundt, Joris A Veltman, R Frank Kooy, Lisenka E L M Vissers, Bert B A de Vries
Determining pathogenicity of genomic variation identified by next-generation sequencing techniques can be supported by recurrent disruptive variants in the same gene in phenotypically similar individuals. However, interpretation of novel variants in a specific gene in individuals with mild-moderate intellectual disability (ID) without recognizable syndromic features can be challenging and reverse phenotyping is often required. We describe 24 individuals with a de novo disease-causing variant in, or partial deletion of, the F-box only protein 11 gene (FBXO11, also known as VIT1 and PRMT9)...
January 24, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30679692/a-gene-expression-signature-in-developing-purkinje-cells-predicts-autism-and-intellectual-disability-co-morbidity-status
#9
Harry Clifford, Anna Dulneva, Chris P Ponting, Wilfried Haerty, Esther B E Becker
Autism spectrum disorder (ASD) is a complex neurodevelopmental disease whose underpinning molecular mechanisms and neural substrates are subject to intense scrutiny. Interestingly, the cerebellum has emerged as one of the key brain regions affected in ASD. However, the genetic and molecular mechanisms that link the cerebellum to ASD, particularly during development, remain poorly understood. To gain insight into the genetic and molecular mechanisms that might link the cerebellum to ASD, we analysed the transcriptome dynamics of a developing cell population highly enriched for Purkinje cells of the mouse cerebellum across multiple timepoints...
January 24, 2019: Scientific Reports
https://read.qxmd.com/read/30661751/predicting-splicing-from-primary-sequence-with-deep-learning
#10
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz, Eric D Chow, Efstathios Kanterakis, Hong Gao, Amirali Kia, Serafim Batzoglou, Stephan J Sanders, Kyle Kai-How Farh
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the mechanisms by which the cellular machinery achieves such specificity are incompletely understood. Here, we describe a deep neural network that accurately predicts splice junctions from an arbitrary pre-mRNA transcript sequence, enabling precise prediction of noncoding genetic variants that cause cryptic splicing. Synonymous and intronic mutations with predicted splice-altering consequence validate at a high rate on RNA-seq and are strongly deleterious in the human population...
January 14, 2019: Cell
https://read.qxmd.com/read/30649225/towards-a-better-diagnosis-and-treatment-of-rett-syndrome-a-model-synaptic-disorder
#11
Abhishek Banerjee, Meghan T Miller, Keji Li, Mriganka Sur, Walter E Kaufmann
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. Rett syndrome features an interesting challenge for biologists and clinicians, as the disorder lies at the intersection of molecular mechanisms of epigenetic regulation and neurophysiological alterations in synapses and circuits that together contribute to severe pathophysiological endophenotypes...
January 12, 2019: Brain: a Journal of Neurology
https://read.qxmd.com/read/30648269/ptprd-neurobiology-genetics-and-initial-pharmacology-of-a-pleiotropic-contributor-to-brain-phenotypes
#12
REVIEW
George R Uhl, Maria J Martinez
Receptor-type protein tyrosine phosphatase, receptor type D (PTPRD) has likely roles as a neuronal cell adhesion molecule and synaptic specifier. Interest in its neurobiology and genomics has been stimulated by results from human genetics and mouse models for phenotypes related to addiction, restless leg syndrome, neurofibrillary pathology in Alzheimer's disease, cognitive impairment/intellectual disability, mood lability, and obsessive-compulsive disorder. We review PTPRD's discovery, gene family, candidate homomeric and heteromeric binding partners, phosphatase activities, brain distribution, human genetic associations with nervous system phenotypes, and mouse model data relevant to these phenotypes...
January 15, 2019: Annals of the New York Academy of Sciences
https://read.qxmd.com/read/30630810/a-novel-nonsense-mutation-of-phf6-in-a-female-with-extended-phenotypes-of-borjeson-forssman-lehmann-syndrome
#13
Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yongguo Yu
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS is featured by intellectual disability (ID), developmental delay (DD), obesity, epilepsy, characteristic face and anomalies of fingers and toes. Endocrinological phenotypes and relevant outcome of treatment in this condition remains to be delineated. Here we report a patient with presentations beyond the classic BFLS - the patient exhibited complete growth hormone deficiency, and adverse effects were elicited after hormonal treatment...
January 11, 2019: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/30630042/resistance-vulnerability-and-resilience-a-review-of-the-cognitive-cerebellum-in-aging-and-neurodegenerative-diseases
#14
Katharine J Liang, Erik S Carlson
In the context of neurodegeneration and aging, the cerebellum is an enigma. Genetic markers of cellular aging in cerebellum accumulate more slowly than in the rest of the brain, and it generates unknown factors that may slow or even reverse neurodegenerative pathology in animal models of Alzheimer's Disease (AD). Cerebellum shows increased activity in early AD and Parkinson's disease (PD), suggesting a compensatory function that may mitigate early symptoms of neurodegenerative pathophysiology. Perhaps most notably, different parts of the brain accumulate neuropathological markers of AD in a recognized progression and generally, cerebellum is the last brain region to do so...
January 7, 2019: Neurobiology of Learning and Memory
https://read.qxmd.com/read/30628890/the-novel-lncrna-lnc-nr2f1-is-pro-neurogenic-and-mutated-in-human-neurodevelopmental-disorders
#15
Cheen Euong Ang, Qing Ma, Orly L Wapinski, ShengHua Fan, Ryan A Flynn, Qian Yi Lee, Bradley Coe, Masahiro Onoguchi, Victor Hipolito Olmos, Brian T Do, Lynn Dukes-Rimsky, Jin Xu, Koji Tanabe, LiangJiang Wang, Ulrich Elling, Josef M Penninger, Yang Zhao, Kun Qu, Evan E Eichler, Anand Srivastava, Marius Wernig, Howard Y Chang
Long noncoding RNAs (lncRNAs) have been shown to act as important cell biological regulators including cell fate decisions but are often ignored in human genetics. Combining differential lncRNA expression during neuronal lineage induction with copy number variation morbidity maps of a cohort of children with autism spectrum disorder/intellectual disability versus healthy controls revealed focal genomic mutations affecting several lncRNA candidate loci. Here we find that a t(5:12) chromosomal translocation in a family manifesting neurodevelopmental symptoms disrupts specifically lnc-NR2F1 ...
January 10, 2019: ELife
https://read.qxmd.com/read/30628072/mrx93-syndrome-brwd3-gene-five-new-patients-with-novel-mutations
#16
Jair Tenorio, Pablo Alarcón, Pedro Arias, Feliciano J Ramos, Jaume Campistol, Salvador Climent, Sixto García-Miñaur, Irene Dapia, Alicia Hernández, Julián Nevado, Mario Solís, Víctor L Ruiz Pérez, The S O G R I Consortium, Pablo Lapunzina
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2-3 standard deviations (SD) above the mean for age and sex. Additional features such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia are usually associated with OGS. Genetic analysis in patients with overlapping clinical features is essential, in order to distinguish between two or more similar conditions, and to provide appropriate genetic counseling and recommendations for follow up...
January 9, 2019: Clinical Genetics
https://read.qxmd.com/read/30615933/down-syndrome-neurobiological-alterations-and-therapeutic-targets
#17
REVIEW
Rosa Anna Vacca, Sweta Bawari, Daniela Valenti, Devesh Tewari, Seyed Fazel Nabavi, Samira Shirooie, Archana N Sah, Mariateresa Volpicella, Nady Braidy, Seyed Mohammad Nabavi
Down syndrome (DS) is a genetic disease that occurs due to an aneuploidy of human chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental abnormalities leading to cognitive and learning deficits. Impairments in GABAergic transmission, noradrenergic neuronal loss, anomalous glutamatergic transmission and N-methyl-d-aspartate receptor signalling, mitochondrial dysfunction, increased oxidative stress and inflammation, differentially expressed microRNAs, increased expression of crucial chromosome 21 genes, and DNA hyper-methylation and hyperactive homocysteine trans-sulfuration pathway, are common incongruities that have been reported in DS and might contribute to cognitive impairment and intellectual disability...
January 4, 2019: Neuroscience and Biobehavioral Reviews
https://read.qxmd.com/read/30614040/first-case-of-rubinstein-taybi-syndrome-with-desquamation-associated-with-a-novel-mutation-in-the-bromodomain-of-the-crebbp-gene
#18
L Wang, Y Deng, X-L Zhou, J J Ma, W Li
Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with RSTS while there has been no report of desquamation so far in any patients with RSTS. We report an unusual case of RSTS in an 8-year-old boy who presented with the typical facial and limb abnormalities of RSTS accompanied with apparent hirsutism and desquamation, but without apparent intellectual disability...
January 6, 2019: Clinical and Experimental Dermatology
https://read.qxmd.com/read/30612247/a-novel-and-mosaic-wdr45-nonsense-variant-causes-beta-propeller-protein-associated-neurodegeneration-identified-through-whole-exome-sequencing-and-x-chromosome-heterozygosity-analysis
#19
Nihan Hande Akçakaya, Barış Salman, Zeliha Görmez, Yelda Tarkan Argüden, Ayşe Çırakoğlu, Raif Çakmur, Berril Dönmez Çolakoğlu, Seniha Hacıhanefioğlu, Uğur Özbek, Zuhal Yapıcı, Sibel Aylin Uğur İşeri
Beta-propeller protein-associated neurodegeneration (BPAN) is an X-linked rare dominant disorder of autophagy. The role of WDR45 has been implicated in BPAN almost exclusively in females possibly due to male lethality. Characterization of distinctive clinical manifestations and potentially the complex genetic determinants in rare male patients remain crucial for deciphering BPAN and other X-linked dominant diseases. We performed whole exome sequencing (WES) followed by segregation analysis and identified a novel nonsense and mosaic variant in WDR45, namely NM_007075...
January 5, 2019: Neuromolecular Medicine
https://read.qxmd.com/read/30601169/disrupted-epigenetics-in-the-sotos-syndrome-neurobehavioral-phenotype
#20
Jacqueline R Harris, Jill A Fahrner
PURPOSE OF REVIEW: Sotos syndrome is among a growing list of disorders resulting from mutations in epigenetic machinery genes. These Mendelian disorders of the epigenetic machinery (MDEMs) exhibit phenotypic overlap broadly characterized by intellectual disability and atypical growth and behaviors. Manifestations of Sotos syndrome include a distinct facial appearance, overgrowth, intellectual disability, and behavioral issues. Herein we review key aspects of Sotos syndrome, focusing on the neurobehavioral phenotype...
December 28, 2018: Current Opinion in Psychiatry
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