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mental retardation genetics

Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee, Doyeong Hwang
Background: Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is inefficient for detecting the submicroscopic deletions and duplications that are associated with malformations and mental retardation. This study evaluated the results of the multiplex ligation-dependent probe amplification (MLPA) P245 assay used for prenatal diagnosis in cases with unusual ultrasonographic findings or specifically where parents wanted to be tested...
2019: Molecular Cytogenetics
Arnau Ramos-Prats, Julia Kölldorfer, Elena Paolo, Maximilian Zeidler, Gabriele Schmid, Francesco Ferraguti
Amongst the many neurotransmitter systems causally linked to the expression of social behavior, glutamate appears to play a pivotal role. In particular, metabotropic glutamate 5 (mGlu5) receptors have received much attention as its altered function has been reported in several mouse models of autism spectrum disorders and mental retardation. Inhibition of the activity of mGlu5 receptors by means of genetic or pharmacological manipulations improved social deficits in some of these animal models. However, in normal wild-type (WT) mice, pharmacological blockade of mGlu5 receptors yielded inconsistent results...
2019: Frontiers in Molecular Neuroscience
Evren Gumus
Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring. Since the first description in 2014, fewer than 50 patients with Xia-Gibbs syndrome have been noticed in the literature. We describe here 2 years 2 months old girl with developmental delay, brain anomalies, laryngomalacia and craniosynostosis...
March 8, 2019: European Journal of Medical Genetics
Jiang Zhang, Guangli Wang, Wei-Wu He, Molly Losh, Elizabeth Berry-Kravis, William E Funk
Fragile X mental retardation protein is an mRNA-binding protein associated with phenotypic manifestations of fragile X syndrome, an X-linked disorder caused by mutation in the FMR1 gene that is the most common inherited cause of intellectual disability. Despite the well-studied genetic mechanism of the disease, the proteoforms of fragile X mental retardation protein have not been thoroughly characterized. Here, we report the expression and mass spectrometric characterization of human fragile X mental retardation protein...
2019: Proteomic Insights
Trang N Le, Stephen R Williams, Joseph T Alaimo, Sarah H Elsea
The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene, which encodes the histone deacetylase 4 protein. Although the most commonly described hallmark features of the 2q37 deletion syndrome include brachydactyly type E, developmental delay, obesity, autistic features, and craniofacial or skeletal dysmorphism, a literature review of 101 published cases plus two newly reported individuals indicates that there is a high degree of variability in the presence of some of the features that are considered the most characteristic of the syndrome: overweight and obesity (34%), cognitive-behavioral issues (79%), dysmorphic craniofacial features (86%), and type E brachydactyly (48%)...
March 7, 2019: American Journal of Medical Genetics. Part A
Hui Sun, Haiying Wu, Rongrong Xie, Fengyun Wang, Ting Chen, Xiuli Chen, Xiaoyan Wang, Frédéric Flamant, Linqi Chen
We found a sporadic case of mental retardation associated with short stature and constipation. We investigated the possible genetic origin of the syndrome. Clinical and biochemical investigations were conducted. Exome sequencing was used to search for pathogenic variations. A de novo mutation (c.1183G>T, p.E395X) was found in one allele of the THRA gene. The mutation creates a stop codon, which eliminates the C-terminal helix of the TR α 1 receptor for thyroid hormone. The patient has typical symptoms for the resistance to thyroid hormone α (RTH α ) genetic disease, but has a normal head circumference...
March 1, 2019: Journal of the Endocrine Society
T Yue, J G Li, Z X Zhou, J Hou, Y J Xu, R Liu, X D Shi
Objective: To analyze clinical, immunological and genetic characteristics of 4 cases of LIG4 syndrome. Methods: We retrospectively analyzed the clinical data of 4 patients from 3 families with LIG4 syndrome who were admitted to Children's Hospital of the Capital Institute of Pediatrics from June 2017 to May 2018, and reviewed related articles, the clinical, immunological and genetic characteristics of LIG4 syndrome were summarized and analyzed. Results: Those 4 cases (P1 to P4), including 2 males and 2 females, had an average age of 1...
March 2, 2019: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Shobhit Chaturvedi, Rajeev Ramanan, Sodiq Waheed, Jon Ainsley, Martin Evison, Jenny Ames, Christopher Schofield, Tatyana Karabencheva-Christova, Christo Christov
The human KDM7 subfamily histone H3 Nɛ-methyl lysine demethylases PHF8 (KDM7B) and KIAA1718 (KDM7A) have different substrate selectivities and are linked to genetic diseases and cancer. We describe experimentally based computational studies revealing that flexibility of the region linking the PHD finger and JmjC domains in PHF8 and KIAA1718 regulates inter-domain interactions, the nature of correlated motions, and ultimately H3 binding and demethylation site selectivity. F279S an X-linked mental retardation mutation in PHF8 is involved in correlated motions with the iron ligands and second sphere residues...
February 28, 2019: Chemistry: a European Journal
Kei Ugata, Noritaka Imamachi, Ai Hashimoto, Yoji Saito
Costello syndrome is a rare genetic disorder characterized by mental and growth retardation and distinctive coarse facies. A significant proportion of patients with Costello syndrome have hypertrophic cardiomyopathy, papillomata, and malignant tumors. General anesthesia practice, especially airway and cardiac management, in patients with Costello syndrome may be complicated by anatomical features and cardiac abnormalities. There have been several reports on the anesthetic management of children with Costello syndrome, but few have reported on the anesthetic management of adults with Costello syndrome...
February 21, 2019: A&A Practice
Chiara Fulcheri, Paolo Balietti, Franco Rabbia, Domenica Schiavone, Corrado Magnino, Federico Abate Daga, Massimiliano Gollin, Franco Veglio
Trisomy of the short arm of chromosome 12 is a rare genetic disease characterised by dysmorphic features, mental retardation, behavioural disorders, seizures predisposition and other congenital abnormalities. Arterial hypertension is not a characteristic feature of 12p trisomy, although congenital heart defects are reported. In this case report, we present a young patient with incomplete trisomy 12p, analysing some characteristics of this disease that have not been previously described in literature.
February 26, 2019: High Blood Pressure & Cardiovascular Prevention: the Official Journal of the Italian Society of Hypertension
Coşkun Armağan, Ceren Yılmaz, Altuğ Koç, Ayhan Abacı, Ayfer Ülgenalp, Ece Böber, Derya Erçal, Korcan Demir
There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. This pathway controls hypothalamic regulation of food intake. A few cases have been reported to have mutations in leptin (LEP) or leptin receptor (LEPR) genes...
February 18, 2019: Hormones: International Journal of Endocrinology and Metabolism
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
Momoko Inoue, Kazuhiro Kajiwara, Ayumi Yamaguchi, Tohru Kiyono, Osamu Samura, Hidenori Akutsu, Haruhiko Sago, Aikou Okamoto, Akihiro Umezawa
Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. In this study, we continuously cultivated induced pluripotent stem cells (iPSCs) with chromosome 21 trisomy for more than 70 weeks, and serendipitously obtained revertant cells with normal chromosome 21 diploids from the trisomic cells during long-term cultivation...
February 13, 2019: Laboratory Investigation; a Journal of Technical Methods and Pathology
Felipe J Núñez, Flor M Mendez, Padma Kadiyala, Mahmoud S Alghamri, Masha G Savelieff, Maria B Garcia-Fabiani, Santiago Haase, Carl Koschmann, Anda-Alexandra Calinescu, Neha Kamran, Meghna Saxena, Rohin Patel, Stephen Carney, Marissa Z Guo, Marta Edwards, Mats Ljungman, Tingting Qin, Maureen A Sartor, Rebecca Tagett, Sriram Venneti, Jacqueline Brosnan-Cashman, Alan Meeker, Vera Gorbunova, Lili Zhao, Daniel M Kremer, Li Zhang, Costas A Lyssiotis, Lindsey Jones, Cameron J Herting, James L Ross, Dolores Hambardzumyan, Shawn Hervey-Jumper, Maria E Figueroa, Pedro R Lowenstein, Maria G Castro
Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1R132H ) are younger at diagnosis and live longer. IDH1 mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 (TP53 ) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene ( ATRX ). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1R132H mutation. The current molecular classification of LGGs is based, partly, on the distribution of these mutations...
February 13, 2019: Science Translational Medicine
F Pesaola, R Kohan, I A Cismondi, N Guelbert, P Pons, A M Oller-Ramirez, I Noher de Halac
INTRODUCTION: CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most frequent in childhood. A putative 286 amino acids transmembrane CLN8 protein with unknown function is affected. Pathological variants in the CLN8 gene were associated with two different phenotypes: variant late-infantile in individuals from many countries worldwide, and epilepsy progressive with mental retardation, appearing in Finnish and Turkish subjects...
February 16, 2019: Revista de Neurologia
Julia Bandura, Zhong-Ping Feng
Neuronal calcium sensor 1 (NCS-1) is a high-affinity calcium-binding protein and its ubiquitous expression in the nervous system implies a wide range of functions. To date, it has been implicated in regulation of calcium channels in both axonal growth cones and presynaptic terminals, pre- and postsynaptic plasticity mechanisms, learning and memory behaviors, dopaminergic signaling, and axonal regeneration. This review summarizes these functions and relates them to several diseases in which NCS-1 plays a role, such as schizophrenia and bipolar disorder, X-linked mental retardation and fragile X syndrome, and spinal cord injury...
February 4, 2019: Molecular Neurobiology
Liang Huo, Ziteng Teng, Hua Wang, Xueyan Liu
BACKGROUND: Pettigrew syndrome (PGS) is a rare X-linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP1S2 mutations. METHODS: This study systematically analyzed clinical features and genetic information of a Chinese family with AP1S2 variation, and reviewed previously reported literatures with the same gene variation...
February 4, 2019: Brain and Behavior
José Ricardo Magliocco Ceroni, Gustavo Marquezani Spolador, Diana Salazar Bermeo, Rachel Sayuri Honjo, Luiz Antonio Nunes de Oliveira, Débora Romeo Bertola, Chong Ae Kim
OBJECTIVE: The present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases. MATERIALS AND METHODS: We conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations...
February 2, 2019: Skeletal Radiology
Giovanna Piovani, Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Chiara Barisani, Giulia Savio, Silvia Clara Giliani
The Cri du Chat Syndrome (CdCS) is a genetic disease resulting from variable size deletion occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, severe psychomotor and mental retardation with characteristics of autism spectrum disorders such as hand flapping, obsessive attachments to objects, twirling objects, repetitive movements, and rocking. We reprogrammed to pluripotency peripheral blood mononuclear cells derived from a patient carrying large deletion on the short arm of chromosome 5, using a commercially available non-integrating expression system...
January 26, 2019: Stem Cell Research
Xiaolu Chen, Tao Yu, Rong Luo
Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. It is an autosomal recessive disorder characterized by a variant in the PANK2 gene, pathogenesis involves mitochondrial dysfunction, oxidative stress damage, lipid metabolism disorders and autophagy disorders...
February 10, 2019: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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