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intellectual disease genetics

Kristina Nadine Heye, Valentin Rousson, Walter Knirsch, Ingrid Beck, Rabia Liamlahi, Vera Bernet, Hitendu Dave, Beatrice Latal
OBJECTIVE: To determine growth and its relationship to IQ in children with congenital heart disease (CHD) undergoing cardiopulmonary bypass surgery within the first year of life. STUDY DESIGN: Prospective single-center cohort study on 143 children (91 males) with different types of CHD (29 univentricular). Children with recognized genetic disorders were excluded. Growth (weight, height, and head circumference [HC]) was assessed at birth, before surgery, and at 1, 4, and 6 years and compared with Swiss growth charts...
October 16, 2018: Journal of Pediatrics
Kai Gao, Yujia Zhang, Ling Zhang, Weijing Kong, Han Xie, Jingmin Wang, Ye Wu, Xiru Wu, Xiaoyan Liu, Yuehua Zhang, Feng Zhang, Albert Cheung-Hoi Yu, Yuwu Jiang
Epilepsy is one of the most common complex neurological diseases. It is frequently associated with intellectual and developmental disabilities (ID/DD). In recent years, copy number variation (CNV), especially microdeletion, was proven to be a potential key factor of genetic epilepsy. In this paper, the authors tested the hypothesis that the large de novo rare CNV is an important cause of epilepsy with ID/DD. We performed a custom array comparative genomic hybridization (aCGH) to detect the CNVs of 96 Chinese epileptic patients with ID/DD...
2018: Advances in Neurobiology
Anis Feki, Youssef Hibaoui
Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer's disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A ( DYRK1A ) encodes a proline-directed serine/threonine and tyrosine kinase that plays pleiotropic roles in neurodevelopment in both physiological and pathological conditions...
October 16, 2018: Brain Sciences
Daniel Soukup, Alma Kuechler, Joachim Roesler, Leopold Pichlmaier, Maximillian Eckerland, Margarete Olivier, Florian Stehling
We report the case of a 19-years-old patient who presented with a perplexing variety of symptoms which included remarkable facial features, intellectual disability, granulomatous upper lip swelling (previously diagnosed as Melkersson-Rosenthal syndrome), Crohn's-like disease, non-productive cough, and a granulomatous mass localized in the left lung. Chronic granulomatous disease (CGD) was diagnosed using dihydrorhodamine 123 assay that showed low levels of phagocytic NADPH-oxidase. DNA sequencing revealed a heterozygous mutation in the NCF-1 gene on chromosome 7...
2018: Frontiers in Genetics
Aaron C Goldstrohm, Traci M Tanaka Hall, Katherine M McKenney
Mammalian Pumilio proteins, PUM1 and PUM2, are members of the PUF family of sequence-specific RNA-binding proteins. In this review, we explore their mechanisms, regulatory networks, biological functions, and relevance to diseases. Pumilio proteins bind an extensive network of mRNAs and repress protein expression by inhibiting translation and promoting mRNA decay. Opposingly, in certain contexts, they can activate protein expression. Pumilio proteins also regulate noncoding (nc)RNAs. The ncRNA, ncRNA activated by DNA damage (NORAD), can in turn modulate Pumilio activity...
October 10, 2018: Trends in Genetics: TIG
Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi
OBJECTIVES: Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clinical management; however, diagnosis is frequently challenging and can be delayed, due to phenotypic heterogeneity. Comprehensive genomic analysis could overcome this disadvantage...
October 6, 2018: Brain & Development
Hui Xi, Yanan Zhang, Liyan Qin, Huaixing Kang, Ranhui Duan, Zhengjun Jia, Hua Wang
OBJECTIVE: To assess the value of genetic testing for Fragile X syndrome (FXS). METHODS: A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting. RESULTS: Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Roberto Palumbi, Antonia Peschechera, Mariella Margari, Francesco Craig, Arcangelo Cristella, Maria Giuseppina Petruzzelli, Lucia Margari
BACKGROUND: Over the last decade, several studies investigated the outcomes in children born very preterm. Only recently there has been an increasing interest in the late preterm infants (born between 34 + 0 and 36 + 6 weeks). This population is at high risk of morbidity and mortality in the first years of life. Other studies reported that they are also at risk of long-term developmental problem. Therefore, the aim of this study is to describe the neurodevelopmental and emotional-behavioral outcome in a sample of late preterm patients...
October 8, 2018: BMC Pediatrics
Alina Ilie, Andy Y L Gao, Annie Boucher, Jaeok Park, Albert M Berghuis, Mariëtte J V Hoffer, Yvonne Hilhorst-Hofstee, R Anne McKinney, John Orlowski
Loss-of-function mutations in the recycling endosomal (Na+ ,K+ )/H+ exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectual disability called Christianson Syndrome (CS). However, knowledge of the disease heterogeneity of CS is limited. Here, we describe the clinical features and underlying molecular and cellular mechanisms associated with a CS patient carrying a de novo missense variant (p...
October 5, 2018: Neurobiology of Disease
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver and diabetes, and to provide appropriate genetic counselling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes. Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis...
October 8, 2018: Current Medical Research and Opinion
Atsushi Takata
Owing to recent advances in DNA sequencing technology, a number of large-scale comprehensive analyses of genetic variations in protein-coding regions (i.e., whole-exome sequencing studies), have been conducted for neuropsychiatric and neurodevelopmental disorders, such as autism spectrum disorders, intellectual disability, and schizophrenia. These studies, especially those focusing on de novo (newly arising) mutations and extremely rare variants, have successfully identified previously unrecognized disease genes/mutations with a large effect size and deepen our understanding of the biology of neuropsychiatric diseases...
October 6, 2018: Psychiatry and Clinical Neurosciences
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras
BACKGROUND: The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype-phenotype correlations to improve genetic counselling and patients' medical care...
October 4, 2018: Journal of Medical Genetics
Jose Roberto Wajman, Leticia Lessa Mansur, Monica Sanches Yassuda
BACKGROUND: Dementias due to neurodegenerative disorders and more specifically, Alzheimer's disease (AD) are the most frequent of all diseases within the industrialized world. Besides this alarming fact, it is noted too that almost three-quarter of people with AD reside in low or middle-income nations. In recent years, cognitive and behavioral neuroscientists have focused on a possible correlation between environmental agents and genetic risk factors for these dementias. METHOD: In this narrative review, a close review of Medical Literature Analysis and Retrieval System was conducted...
October 3, 2018: Current Aging Science
P Yt Chan, H M Luk, F My Lee, I Fm Lo
INTRODUCTION: Chromosomal microarray (CMA) is recommended as a first-tier genetic investigation for intellectual disability (ID), developmental delay, or autism spectrum disorder due to its higher diagnostic yield with respect to conventional karyotyping. The aim of the present study was to investigate the genetic profile and diagnostic yield of CMA in children with moderate, severe and profound ID. METHODS: A pilot cross-sectional study was performed by the Child Assessment Service and the Clinical Genetic Service in Hong Kong from July 2016 to June 2017...
October 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
Yufei Wu, Huan Zhang, Xiaofen Liu, Zhangyan Shi, Hongling Li, Zhibin Wang, Xiaoyong Jie, Shaoping Huang, Fuchang Zhang, Junlin Li, Kejin Zhang, Xiaocai Gao
Mutations of Aristaless-related homeobox (ARX) gene were looked as the third cause of non-syndromic intellectual disability (NSID), while the boundary between true disease-causing mutations and non-disease-causing variants within this gene remains elusive. To investigate the relationship between ARX mutations and NSID, a panel comprising six reported causal mutations of the ARX was detected in 369 sporadic NSID patients and 550 random participants in Chinese. Two mutations, c.428_451 dup and p.G286S, may be disease-causing mutations for NSID, while p...
September 25, 2018: Genes & Genomics
Sateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, Talal Algoufi, Hessa S Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mohammed Barr, Hamad Alzaidan, Ali Almehaideb, Omai AlSasi, Amal Alhashem, Hussa Al- Hussaini, Sami Wali, Fowzan S Alkuraya
PURPOSE: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized. METHODS: Exome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical testing for known disease genes. RESULTS: KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis...
September 25, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Faruk Incecik, Atil Bisgin, Mustafa Yılmaz
MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing...
September 23, 2018: Metabolic Brain Disease
Valentina Decimi, Barbara Parma, Roberto Panceri, Chiara Fossati, Milena Mariani, Silvia Russo, Cristina C Gervasini, Maurizio Cheli, Anna Cereda, Angelo Selicorni
Cornelia de Lange syndrome (CdLS) is a genetic condition characterized by intellectual disability, peculiar facial dysmorphisms, multiorgan malformations, and growth problems. Majority cases of CdLS are caused by mutations in genes of Cohesin pathway. Although feeding problems are a well-known feature, no specific data have been published about the use of nutritional devices. We analyzed use, type, time of introduction, and duration of nutritional devices in 73 CdLS patients. In total, 29/73 (40%) used a device; nasogastric tube (NGT) in 28/73 (38%) and percutaneous endoscopic gastrostomy (PEG) in 7/73 (10%)...
September 2018: American Journal of Medical Genetics. Part A
Nathan Duval, Guido N Vacano, David Patterson
Down syndrome (DS), caused by trisomy of chromosome 21, is the most common genetic cause of intellectual disability. Individuals with DS exhibit changes in neurochemistry and neuroanatomy that worsen with age, neurological delay in learning and memory, and predisposition to Alzheimer's disease. The Ts65Dn mouse is the best characterized model of DS and has many features reminiscent of DS, including developmental anomalies and age-related neurodegeneration. The mouse carries a partial triplication of mouse chromosome 16 containing roughly 100 genes syntenic to human chromosome 21 genes...
2018: Frontiers in Aging Neuroscience
Nobuhiro Kurabayashi, Minh Dang Nguyen, Kamon Sanada
Down syndrome (DS) also known as Trisomy 21 is a genetic disorder that occurs in ∼1 in 800 live births. The disorder is caused by the triplication of all or part of human chromosome 21 and therefore, is thought to arise from the increased dosage of genes found within chromosome 21. The manifestations of the disease include among others physical growth delays and intellectual disability. A prominent anatomical feature of DS is the microcephaly that results from altered brain development. Recent studies using mouse models of DS have shed new light on DYRK1A (dual-specificity tyrosine-phosphorylation-regulated kinase 1A), a gene located on human chromosome 21 that plays a critical role in neocortical development...
September 15, 2018: Neuroscience Research
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