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https://www.readbyqxmd.com/read/29790872/genomic-sequencing-identifies-secondary-findings-in-a-cohort-of-parent-study-participants
#1
Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James M J Lawlor, Whitley V Kelley, Edward J Lose, Carla A Rich, Shirley Simmons, Shawn E Levy, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
PurposeClinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.MethodsExome/genome sequencing and analysis of 789 "unaffected" parents was performed.ResultsPathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7)...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29785027/targeting-g-quadruplex-dna-as-cognitive-function-therapy-for-atr-x-syndrome
#2
Norifumi Shioda, Yasushi Yabuki, Kouya Yamaguchi, Misaki Onozato, Yue Li, Kenji Kurosawa, Hideyuki Tanabe, Nobuhiko Okamoto, Takumi Era, Hiroshi Sugiyama, Takahito Wada, Kohji Fukunaga
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein. Genome-wide analyses in mouse and human cells indicate that ATRX tends to bind to G-rich sequences with a high potential to form G-quadruplexes. Here, we report that Atrx mutation induces aberrant upregulation of Xlr3b expression in the mouse brain, an outcome associated with neuronal pathogenesis displayed by ATR-X model mice. We show that ATRX normally binds to G-quadruplexes in CpG islands of the imprinted Xlr3b gene, regulating its expression by recruiting DNA methyltransferases...
May 21, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29782060/autosomal-dominant-early-onset-spastic-paraparesis-with-brain-calcification-due-to-ifih1-gain-of-function
#3
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification in all symptomatic family members. A marked upregulation of interferon stimulated gene (ISG) transcripts was recorded in all three affected individuals and in two clinically unaffected relatives...
May 21, 2018: Human Mutation
https://www.readbyqxmd.com/read/29780943/longitudinal-ophthalmic-findings-in-a-child-with-helsmoortel-van-der-aa-syndrome
#4
Michael J Gale, Hope E Titus, Gareth A Harman, Talal Alabduljalil, Anna Dennis, Jenny L Wilson, David M Koeller, Erika Finanger, Peter A Blasco, Pei-Wen Chiang, Daniel J Karr, Paul Yang
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#5
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#6
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#7
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29769320/o-glcnac-transferase-missense-mutations-linked-to-x-linked-intellectual-disability-deregulate-genes-involved-in-cell-fate-determination-and-signaling
#8
Nithya Selvan, Stephan George, Fatema J Serajee, Marie Shaw, Lynne Hobson, Vera M Kalscheuer, Nripesh Prasad, Shawn E Levy, Juliet Taylor, Salim Afitmos, Charles E Schwartz, Ahm M Huq, Jozef Gecz, Lance Wells
It is estimated that ~1% of the world's population has intellectual disability, with males affected more often than females. OGT is an X-linked gene encoding for the enzyme O-GlcNAc transferase (OGT), which carries out the reversible addition of N-Acetylglucosamine (GlcNAc) to Ser/Thr residues of its intracellular substrates. Three missense mutations in the tetratricopeptide (TPR) repeats of OGT have recently been reported to cause X-linked Intellectual Disability (XLID). Here we report the discovery of two additional novel missense mutations (c...
May 16, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#9
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29764901/the-histone-demethylase-kdm5-is-essential-for-larval-growth-in-drosophila
#10
Coralie Drelon, Helen M Belalcazar, Julie Secombe
Regulated gene expression is necessary for developmental and homeostatic processes. The KDM5 family of transcriptional regulators are histone H3 lysine 4 demethylases that can function through both demethylase-dependent and independent mechanisms. While loss and overexpression of KDM5 proteins are linked to intellectual disability and cancer, respectively, their normal developmental functions remain less characterized. Drosophila melanogaster provides an ideal system to investigate KDM5 function, as it encodes a single ortholog in contrast to the four paralogs found in mammalian cells...
May 15, 2018: Genetics
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#11
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#12
Ekaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, Denis V Pyankov, Philip A Koshkin, Larisa S Baleva, Alla E Sipyagina, Elena N Yakusheva, Anastasiya E Kuchina, Sergey A Korostelev
Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#13
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29758292/novel-truncating-ppm1d-mutation-in-a-patient-with-intellectual-disability
#14
Joseph Porrmann, Andreas Rump, Karl Hackmann, Nataliya Di Donato, Anne-Karin Kahlert, Johannes Wagner, Arne Jahn, Ines Eger, Monika Flury, Evelin Schrock, Andreas Tzschach, Laura Gieldon
Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as well as a high pain threshold were described as additional characteristic features and the disorder was subsequently termed "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)" in the OMIM database (MIM # 617450). Here we report on an additional patient carrying a novel de novo truncating mutation NM_003620...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29756080/-de-novo-mutations-and-rare-variants-occurring-in-nmda-receptors
#15
Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan
A significant number of variants/mutations in the N -methyl-D -aspartate glutamatergic receptor (NMDAR) gene family ( GRIN ) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia...
April 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29754270/heterozygous-missense-variants-of-lmx1a-lead-to-nonsyndromic-hearing-impairment-and-vestibular-dysfunction
#16
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A Huynen, Hanka Venselaar, Andy J Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M van Rossum, Bas P Hartel, Stefan H Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J Rotteveel, Marieke F van Dooren, Peter Lichtner, Henricus P M Kunst, Ilse Feenstra, Ronald J C Admiraal, Helger G Yntema, Lies H Hoefsloot, Ronald J E Pennings, Hannie Kremer
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein-protein interactions...
May 12, 2018: Human Genetics
https://www.readbyqxmd.com/read/29753094/sequence-variations-in-tenm3-gene-causing-eye-anomalies-with-intellectual-disability-expanding-the-phenotypic-spectrum
#17
Bharti Singh, Priyanka Srivastava, Shubha R Phadke
Microphthalmia, anophthalmia are the malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball. Coloboma of iris is associated with many of the cases. Here, we report a propositus with eye anomalies and intellectual disability associated with TENM3 pathogenic variations identified by exome sequencing and confirms intellectual disability as a phenotype associated with TENM3 variations. This child was compound heterozygote [NM_001080477.3(TENM3):c.4046C > G; p.(Ala1349Gly) and NM_001080477...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#18
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29752575/expression-pattern-of-cdkl5-during-zebrafish-early-development-implications-for-use-as-model-for-atypical-rett-syndrome
#19
Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancela
Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease...
May 11, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29747824/congenital-disorders-of-ganglioside-biosynthesis
#20
T August Li, Ronald L Schnaar
Gangliosides are expressed on all vertebrate cells and tissues, but are particularly abundant in the mammalian brain, where they constitute major cell-surface determinants on all nerve cells. The same four ganglioside structures, GM1, GD1a, GD1b, and GT1b, constitute the great majority of brain gangliosides in all mammals. Biosynthesis of these major brain gangliosides starts with addition of glucose to the ceramide lipid carrier followed by stepwise addition of up to six additional monosaccharides. This primarily involves the sequential action of seven glycosyltransferases, many of which appear to act specifically on glycolipid (rather than glycoprotein) acceptors...
2018: Progress in Molecular Biology and Translational Science
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