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https://www.readbyqxmd.com/read/28801347/a-simple-algorithmic-approach-using-histology-and-immunohistochemistry-for-the-current-classification-of-adult-diffuse-glioma-in-a-resource-limited-set-up
#1
R T Rajeswarie, Shilpa Rao, Bevinahalli N Nandeesh, T Chickabasaviah Yasha, Vani Santosh
AIMS: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up. METHODS: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX)...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28795231/radiation-induced-gliomas-a-report-of-four-cases-and-analysis-of-molecular-biomarkers
#2
Tsunehito Nakao, Yasuo Sasagawa, Sumihito Nobusawa, Yasushi Takabatake, Hemragul Sabit, Masashi Kinoshita, Katsuyoshi Miyashita, Yasuhiko Hayashi, Hideaki Yokoo, Mitsutoshi Nakada
Radiation-induced glioma (RIG) is a rare secondary glioma. The tumors morphologically resemble their sporadically arising counterparts. Recently, the WHO classification of tumors of the central nervous system was revised to incorporate molecular biomarkers together with classic histological features. The status of molecular biomarkers in RIG, however, remains unclear. The objective of this study was to investigate if commonly accepted glioma-specific biomarkers are relevant in RIGs. Among 269 gliomas diagnosed as WHO grade 2, 3 and 4 in our institution, four were diagnosed as RIGs...
August 9, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28777853/-genetic-analysis-of-a-mental-retardation-patient-with-a-rare-karyotype-involving-complex-rearrangements-of-five-chromosomes
#3
Qiong Pan, Xin Jin, Liyan Zhu, Yue Hu, Fengting Zhang, Longfei Cheng, Ying Ning
OBJECTIVE: To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy. METHODS: The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored. RESULTS: The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#4
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28774370/-recurrent-anorexia-and-pigmentation-of-skin-for-more-than-two-months-in-an-infant
#5
Zhang-Qian Zheng, Bing-Bing Wu, Miao-Ying Zhang, Wei Lu, Fei-Hong Luo
A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q10 and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28771897/clinical-and-mutational-spectrum-of-charcot-marie-tooth-disease-type-2z-caused-by-morc2-variants-in-japan
#6
M Ando, Y Okamoto, A Yoshimura, J-H Yuan, Y Hiramatsu, Y Higuchi, A Hashiguchi, J Mitsui, H Ishiura, S Fukumura, M Matsushima, N Ochi, J Tsugawa, S Morishita, S Tsuji, H Takashima
BACKGROUND AND PURPOSE: The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. We aimed to describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan. METHODS: We analyzed samples from 781 unrelated patients clinically diagnosed with CMT using deoxyribonucleic acid microarray or targeted resequencing by next-generation sequencing, and samples from 434 mutation-negative patients were subjected to whole-exome sequencing...
August 3, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28766492/mody3-renal-cysts-and-dandy-walker-variants-with-a-microdeletion-spanning-the-hnf1a-gene
#7
Hiro Matsukura, Mariko Nagamori, Kazushi Miya, Tohru Yorifuji
Heterozygous hepatocyte nuclear factor-1-α gene (HNF1A) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by HNF1B mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. HNF1A mutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, the HNF1B gene had no mutations...
August 2, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28765568/novel-copy-number-variation-of-pomgnt1-associated-with-muscle-eye-brain-disease-detected-by-next-generation-sequencing
#8
Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle-eye-brain disease (MEB). Our study aimed to retrospectively analyze and characterize the clinical and genetic features of three MEB patients with POMGNT1 mutations. One female and two male patients from three unrelated families were diagnosed with MEB, manifesting hypotonia at birth, mental retardation, structural brain defects, and ocular malformations...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28757702/clinical-characteristics-of-crouzon-syndrome
#9
L Balyen, L S Deniz Balyen, S Pasa
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure...
May 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28744893/tonotopic-alterations-in-inhibitory-input-to-the-medial-nucleus-of-the-trapezoid-body-in-a-mouse-model-of-fragile-x-syndrome
#10
Elizabeth A McCullagh, Ernesto Salcedo, Molly M Huntsman, Achim Klug
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine and GABA) in the auditory brainstem of Fmr1 knockout mice...
July 26, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28743991/altered-visual-cortical-processing-in-a-mouse-model-of-mecp2-duplication-syndrome
#11
Dinghong Zhang, Bin Yu, Jing Liu, Weiqian Jiang, Taorong Xie, Ran Zhang, Dali Tong, Zilong Qiu, Haishan Yao
As an epigenetic modulator of gene expression, Methyl-CpG binding protein 2 (MeCP2) is essential for normal neurological function. Dysfunction of MeCP2 is associated with a variety of neurological disorders. MECP2 gene duplication in human causes neuropsychiatric symptoms such as mental retardation and autism. MeCP2 overexpression in mice results in neurobehavioural disorders, dendritic abnormalities, and synaptic defects. However, how gain of MeCP2 function influences cortical processing of sensory information remains unclear...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724954/loss-of-x-linked-protocadherin-19-differentially-affects-the-behavior-of-heterozygous-female-and-hemizygous-male-mice
#12
Shuichi Hayashi, Yoko Inoue, Satoko Hattori, Mari Kaneko, Go Shioi, Tsuyoshi Miyakawa, Masatoshi Takeichi
Mutations in the X-linked gene Protocadherin-19 (Pcdh19) cause female-limited epilepsy and mental retardation in humans. Although Pcdh19 is known to be a homophilic cell-cell adhesion molecule, how its mutations bring about female-specific disorders remains elusive. Here, we report the effects of Pcdh19 knockout in mice on their development and behavior. Pcdh19 was expressed in various brain regions including the cerebral cortex and hippocampus. Although Pcdh19-positive cells were evenly distributed in layer V of wild-type cortices, their distribution became a mosaic in Pcdh19 heterozygous female cortices...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28719137/neocortical-developmental-analysis-of-vasculature-and-their-growth-factors-offer-new-insight-into-fragile-x-syndrome-abnormalities
#13
Amogh P Belagodu, Stephen Fleming, Roberto Galvez
Fragile X Syndrome (FXS) is the most common single gene cause for Autism Spectrum Disorder and the most prevalent form of inherited mental retardation. Our prior studies have demonstrated that adult FXS mice have abnormal blood vessel density (BVD) and elevated Vascular Endothelial Growth Factor A expression (VEGF-A). VEGF-A is one of the most prominent regulators of BVD, and its abnormal expression is the most likely cause for FXS BVD abnormalities. We have demonstrated that attenuating elevated VEGF-A expression can ameliorate many non-vascular FXS abnormalities (Belagodu, Zendeli Slater and Galvez: Dev Neurobiol 77 (2017) 14-25), suggesting that abnormal VEGF-A expression is an underlying cause for some FXS abnormalities...
July 18, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28719003/mutation-intolerant-genes-and-targets-of-fmrp-are-enriched-for-nonsynonymous-alleles-in-schizophrenia
#14
Ganna Leonenko, Alexander L Richards, James T Walters, Andrew Pocklington, Kimberly Chambert, Mariam M Al Eissa, Sally I Sharp, Niamh L O'Brien, David Curtis, Nicholas J Bass, Andrew McQuillin, Christina Hultman, Jennifer L Moran, Steven A McCarroll, Pamela Sklar, Benjamin M Neale, Peter A Holmans, Michael J Owen, Patrick F Sullivan, Michael C O'Donovan
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in schizophrenia to date, using samples from the United Kingdom and Sweden (10,011 schizophrenia cases and 13,791 controls)...
July 18, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28708947/kv10-1-potassium-channel-from-the-brain-to-the-tumors
#15
Verna Cázares-Ordoñez, Luis A Pardo
<i>KCNH1</i> gene encodes the Kv10.1 (Eag1) ion channel, a member of the EAG (ether-à-go-go) family of voltage-gated potassium channels. Recent studies have demonstrated that <i>KCHN1</i> mutations are implicated in Temple-Baraitser and Zimmermann-Laband syndromes and other forms of developmental deficits that all present with mental retardation and epilepsy, suggesting that Kv10.1 might be important for cognitive development in human. Although Kv10.1 channel is mainly expressed in the mammalian brain, its ectopic expression occurs in 70% of human cancers...
July 14, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28706256/an-extremely-high-dietary-iodide-supply-forestalls-severe-hypothyroidism-in-na-i-symporter-nis-knockout-mice
#16
Giuseppe Ferrandino, Rachel R Kaspari, Andrea Reyna-Neyra, Nabil E Boutagy, Albert J Sinusas, Nancy Carrasco
The sodium/iodide symporter (NIS) mediates active iodide (I(-)) accumulation in the thyroid, the first step in thyroid hormone (TH) biosynthesis. Mutations in the SLC5A5 gene encoding NIS that result in a non-functional protein lead to congenital hypothyroidism due to I(-) transport defect (ITD). ITD is a rare autosomal disorder that, if not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improper development of the nervous system. However, in some patients, hypothyroidism has been ameliorated by unusually large amounts of dietary I(-)...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704707/a-founder-mutation-underlies-a-severe-form-of-phosphoglutamase-3-pgm3-deficiency-in-tunisian-patients
#17
Leila Ben-Khemis, Najla Mekki, Imen Ben-Mustapha, Karen Rouault, Fethi Mellouli, Monia Khemiri, Mohamed Bejaoui, Leila Essaddam, Saayda Ben-Becher, Lamia Boughamoura, Saida Hassayoun, Meriem Ben-Ali, Mohamed-Ridha Barbouche
Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients. They belong to three highly consanguineous families, originating from a rural district in the west central Tunisia...
July 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28697590/prevalence-of-fragile-x-syndrome-among-children-receiving-special-education-and-carrier-states-in-first-degree-relatives
#18
B Chandrasekara, S Wijesundera, S S Chong, H N Perera
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children...
June 30, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#19
Rachael C Birch, Jonathan Cohen, Julian N Trollor
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed...
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28691460/the-%C3%A2-elfin-face%C3%A2-craniofacial-and-dental-aspects-of-the-williams-beuren-syndrome
#20
V Maurino, L Azzi, R Vinci, F Croveri, A Boggio, J Silvestre-Rangil, L Tettamanti, A Tagliabue
Williams Syndrome is a rare congenital disorder characterized by supravalvular aortic stenosis, peripheral pulmonary artery stenosis, mental retard and dysmorfic facial features. As regards the dental aspects of the syndrome, the deletion of the elastin gene induced clinicians to suspect periodontal alterations with a greater frequency of gingivo-periodontitis, but on the contrary no association between the syndrome and periodontal diseases have been found. Furthermore, patients show a higher frequency of teeth hypoplasia, an abnormal tooth morphology during primary dentition (12...
April 2017: Journal of Biological Regulators and Homeostatic Agents
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