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Neurogenetics

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https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#1
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28493104/hypomyelinating-leukodystrophy-associated-with-a-deleterious-mutation-in-the-atrn-gene
#2
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. A homozygous mutation, c.3068+5G>A, was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients' cDNA and a predicted premature termination of the ATRN polypeptide...
May 10, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28391543/increased-brain-expression-of-gpnmb-is-associated-with-genome-wide-significant-risk-for-parkinson-s-disease-on-chromosome-7p15-3
#3
Megha N Murthy, Cornelis Blauwendraat, Sebastian Guelfi, John Hardy, Patrick A Lewis, Daniah Trabzuni
Genome wide association studies (GWAS) for Parkinson's disease (PD) have previously revealed a significant association with a locus on chromosome 7p15.3, initially designated as the glycoprotein non-metastatic melanoma protein B (GPNMB) locus. In this study, the functional consequences of this association on expression were explored in depth by integrating different expression quantitative trait locus (eQTL) datasets (Braineac, CAGEseq, GTEx, and Phenotype-Genotype Integrator (PheGenI)). Top risk SNP rs199347 eQTLs demonstrated increased expressions of GPNMB, KLHL7, and NUPL2 with the major allele (AA) in brain, with most significant eQTLs in cortical regions, followed by putamen...
April 8, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28229249/adcy5-related-dyskinesia-presenting-as-familial-myoclonus-dystonia
#4
Andrew G L Douglas, Gaia Andreoletti, Kevin Talbot, Simon R Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C Foulds
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c...
April 2017: Neurogenetics
https://www.readbyqxmd.com/read/28190221/analysis-of-gene-expression-in-the-nervous-system-identifies-key-genes-and-novel-candidates-for-health-and-disease
#5
Sarah M Carpanini, Thomas M Wishart, Thomas H Gillingwater, Jean C Manson, Kim M Summers
The incidence of neurodegenerative diseases in the developed world has risen over the last century, concomitant with an increase in average human lifespan. A major challenge is therefore to identify genes that control neuronal health and viability with a view to enhancing neuronal health during ageing and reducing the burden of neurodegeneration. Analysis of gene expression data has recently been used to infer gene functions for a range of tissues from co-expression networks. We have now applied this approach to transcriptomic datasets from the mammalian nervous system available in the public domain...
April 2017: Neurogenetics
https://www.readbyqxmd.com/read/28190220/erratum-to-parp10-deficiency-manifests-by-severe-developmental-delay-and-dna-repair-defect
#6
Maher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, Motee Ashhab, Adri M Galvan, Daniel Constantin, Bassam Abu-Libdeh, George-Lucian Moldovan, Orly Elpeleg
No abstract text is available yet for this article.
April 2017: Neurogenetics
https://www.readbyqxmd.com/read/28124177/tfg-associated-hereditary-spastic-paraplegia-an-addition-to-the-phenotypic-spectrum
#7
Huma Tariq, Sadaf Naz
Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons. We describe two siblings affected with a recessive form of movement disorder. Whole-exome sequencing revealed a homozygous missense mutation c.64 C>T (p.Arg22Trp) in TFG as cause of the disorder. Comparison of the phenotype of the patients of this study, with that reported previously, revealed differences in the severity of the disorder as well as new clinical findings...
April 2017: Neurogenetics
https://www.readbyqxmd.com/read/28058511/identification-and-functional-characterization-of-a-novel-mtfmt-mutation-associated-with-selective-vulnerability-of-the-visual-pathway-and-a-mild-neurological-phenotype
#8
Roberta La Piana, Woranontee Weraarpachai, Luis H Ospina, Martine Tetreault, Jacek Majewski, G Bruce Pike, Jean-Claude Decarie, Donatella Tampieri, Bernard Brais, Eric A Shoubridge
Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, early-onset mitochondrial leukoencephalopathy, microcephaly, ataxia, and cardiomyopathy. We identified compound heterozygous MTFMT mutations in a patient with a mild neurological phenotype and late-onset progressive visual impairment. MRI studies documented a progressive and selective involvement of the retrochiasmatic visual pathway...
April 2017: Neurogenetics
https://www.readbyqxmd.com/read/27747449/recurrent-kif2a-mutations-are-responsible-for-classic-lissencephaly
#9
Mara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, Sébastien Moutton, Els A J Peeters, Camille Maillard, Jean Michel Pedespan, Anne-Marie Guerrot, Valérie Drouin-Garaud, Christine Coubes, David Genevieve, Christine Bole-Feysot, Cecile Fourrage, Julie Steffann, Nadia Bahi-Buisson
Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. In parallel, we re-evaluated the two previously reported cases showing de novo mutations of the same residues...
April 2017: Neurogenetics
https://www.readbyqxmd.com/read/28289907/pain-insensitivity-distal-s6-segment-mutations-in-nav1-9-emerge-as-critical-hotspot
#10
LETTER
Margaret K King, Enrico Leipold, Jessica M Goehringer, Ingo Kurth, Thomas D Challman
No abstract text is available yet for this article.
March 13, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28285357/alternative-outcomes-of-pathogenic-complex-somatic-structural-variations-in-the-genomes-of-nf1-and-nf2-patients
#11
Meng-Chang Hsiao, Arkadiusz Piotrowski, Andrzej Brunon Poplawski, Tom Callens, Chuanhua Fu, Ludwine Messiaen
Multiplex ligation-dependent probe amplification (MLPA) has been widely used to identify copy-number variations (CNVs), but MLPA's sensitivity and specificity in mosaic CNV detection are largely unknown. Here, we present two mosaic deletions identified by MLPA as NF1 deletion of exons 17-21 and NF2 deletion of exons 9-10. Through cDNA analysis, genomic breakpoint-spanning PCR and Sanger sequencing, we found however both NF1 and NF2 deletions are each composed of two consecutive deletions, which cannot be differentiated by MLPA...
March 11, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#12
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/28058510/homozygous-mutation-p-pro304his-in-idh3a-encoding-isocitrate-dehydrogenase-subunit-is-associated-with-severe-encephalopathy-in-infancy
#13
Aviva Fattal-Valevski, Hila Eliyahu, NItai D Fraenkel, Ganit Elmaliach, Moran Hausman-Kedem, Avraham Shaag, Dror Mandel, Ophry Pines, Orly Elpeleg
Mitochondrial encephalopathies are a heterogeneous group of disorders which generally carries a grave prognosis. Using exome sequencing, we identified a homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement. Mammalian isocitrate dehydrogenase (IDH) 3 is a heterotetramer of 2alfa, 1beta, and 1gamma subunits, and IDH3A encodes the alfa subunit of the mitochondrial NAD(+)-dependent IDH. Here we show that in contrast to wild-type human IDH3A, the human IDH3A which harbor the p...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/28005197/sbf1-mutations-associated-with-autosomal-recessive-axonal-neuropathy-with-cranial-nerve-involvement
#14
Andreea Manole, Alejandro Horga, Josep Gamez, Nuria Raguer, Maria Salvado, Beatriz San Millán, Carmen Navarro, Alan Pittmann, Mary M Reilly, Henry Houlden
Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27921172/erratum-to-parp10-deficiency-manifests-by-severe-developmental-delay-and-dna-repair-defect
#15
Maher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, Motee Ashhab, Adri M Galvan, Daniel Constantin, Bassam Abu-Libdeh, George-Lucian Moldovan, Orly Elpeleg
No abstract text is available yet for this article.
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27913898/erratum-to-clinical-and-molecular-study-in-a-long-surviving-patient-with-mlasa-syndrome-due-to-novel-pus1-mutations
#16
Michelangelo Cao, Marta Donà, Maria Lucia Valentino, Claudio Semplicini, Alessandra Maresca, Matteo Cassina, Alessandra Torraco, Eva Galletta, Valeria Manfioli, Gianni Sorarù, Valerio Carelli, Roberto Stramare, Enrico Bertini, Rosalba Carrozzo, Leonardo Salviati, Elena Pegoraro
No abstract text is available yet for this article.
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#17
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27826691/drd2-c957t-polymorphism-is-associated-with-improved-6-month-verbal-learning-following-traumatic-brain-injury
#18
John K Yue, Ethan A Winkler, Jonathan W Rick, John F Burke, Thomas W McAllister, Sam S Oh, Esteban G Burchard, Donglei Hu, Jonathan Rosand, Nancy R Temkin, Frederick K Korley, Marco D Sorani, Adam R Ferguson, Hester F Lingsma, Sourabh Sharma, Caitlin K Robinson, Esther L Yuh, Phiroz E Tarapore, Kevin K W Wang, Ava M Puccio, Pratik Mukherjee, Ramon Diaz-Arrastia, Wayne A Gordon, Alex B Valadka, David O Okonkwo, Geoffrey T Manley
Traumatic brain injury (TBI) often leads to heterogeneous clinical outcomes, which may be influenced by genetic variation. A single-nucleotide polymorphism (SNP) in the dopamine D2 receptor (DRD2) may influence cognitive deficits following TBI. However, part of the association with DRD2 has been attributed to genetic variability within the adjacent ankyrin repeat and kinase domain containing 1 protein (ANKK1). Here, we utilize the Transforming Research and Clinical Knowledge in Traumatic Brain Injury Pilot (TRACK-TBI Pilot) study to investigate whether a novel DRD2 C957T polymorphism (rs6277) influences outcome on a cognitive battery at 6 months following TBI-California Verbal Learning Test (CVLT-II), Wechsler Adult Intelligence Test Processing Speed Index Composite Score (WAIS-PSI), and Trail Making Test (TMT)...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27726050/mosaicism-in-atp1a3-related-disorders-not-just-a-theoretical-risk
#19
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27709425/epigenome-wide-dna-methylation-analysis-in-siblings-and-monozygotic-twins-discordant-for-sporadic-parkinson-s-disease-revealed-different-epigenetic-patterns-in-peripheral-blood-mononuclear-cells
#20
Oliver Kaut, Ina Schmitt, Jörg Tost, Florence Busato, Yi Liu, Per Hofmann, Stephanie H Witt, Marcella Rietschel, Holger Fröhlich, Ullrich Wüllner
Numerous studies have elucidated the genetics of Parkinson's disease; however, the aetiology of the majority of sporadic cases has not yet been resolved. We hypothesized that epigenetic variations could be associated with PD and evaluated the DNA methylation pattern in PD patients compared to brothers or twins without PD. The methylation of DNA from peripheral blood mononuclear cells of 62 discordant siblings including 24 monozygotic twins was characterized with Illumina DNA Methylation 450K bead arrays and subsequently validated in two independent cohorts: 221 PD vs...
January 2017: Neurogenetics
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