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mental retardation genetics

Parisa Goodarzi, Khadijeh Falahzadeh, Hamidreza Aghayan, Moloud Payab, Bagher Larijani, Sepideh Alavi-Moghadam, Akram Tayanloo-Beik, Hossein Adibi, Kambiz Gilany, Babak Arjmand
Regenerative medicine as a background of stem cell research and therapy has a long history. A wide variety of diseases including Parkinson's disease, heart diseases, multiple sclerosis, spinal cord injury, diabetes mellitus and etc. are candidate to be treated using different types of stem cells. There are several sources of stem cells such as bone marrow, umbilical cord, peripheral blood, germ cells and the embryo/fetus tissues. Fetal stem cells (FSCs) and embryonic stem cells (ESCs) have been described as the most potent stem cell source...
December 7, 2018: Cell and Tissue Banking
Ramush Bejiqi, Ragip Retkoceri, Naim Zeka, Rinor Bejiqi, Samir Bejic
Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate...
October 2018: Medical Archives
Juan Xie, Jianlin Zhang, Yimei Yang, Shanshan Wang, Junrong Zhang, Feng Yao, Haibo Li, Yuquan Zhang
OBJECTIVE: To explore the genetic cause for a child featuring growth and mental retardation. METHODS: Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result. RESULTS: The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Abdulaziz Alsemari, Mohanned Alsuhaibani, Rawabi Alhathlool, Bayan Mamdouh Ali
The interaction of multiple genetic factors, as opposed to monogenic inheritance, has been suspected to play a role in many diseases. This interaction has been described as an oligogenic inheritance model, which may be a useful tool in explaining certain clinical observations. The purpose of this study was to search for novel genetic defects among members of a family with traits that include mental retardation, short stature, osteopetrosis, calcification of basal ganglia, and thinning of the corpus callosum...
2018: Application of Clinical Genetics
Claudia Danesi, Venkat Swaroop Achuta, Padraic Corcoran, Ulla-Kaisa Peteri, Giorgio Turconi, Nobuaki Matsui, Ilyas Albayrak, Veronika Rezov, Anders Isaksson, Maija L Castrén
The absence of FMR1 protein (FMRP) causes fragile X syndrome (FXS) and disturbed FMRP function is implicated in several forms of human psychopathology. We show that intracellular calcium responses to depolarization are augmented in neural progenitors derived from human induced pluripotent stem cells and mouse brain with FXS. Increased calcium influx via nifedipine-sensitive voltage-gated calcium (Cav ) channels contributes to the exaggerated responses to depolarization and type 1 metabotropic glutamate receptor activation...
December 11, 2018: Stem Cell Reports
Ha Eun Kong, Junghwa Lim, Feiran Zhang, Luoxiu Huang, Yanghong Gu, David L Nelson, Emily G Allen, Peng Jin
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects premutation carriers (55-200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene. Much remains unknown regarding the metabolic alterations associated with FXTAS, especially in the brain, and the most affected region, the cerebellum. Investigating the metabolic changes in FXTAS will aid in the identification of biomarkers as well as in understanding the pathogenesis of disease. To identify the metabolic alterations associated with FXTAS, we took advantage of our FXTAS mouse model that expresses 90 CGG repeats in cerebellar Purkinje neurons and exhibits the key phenotypic features of FXTAS...
November 26, 2018: Human Molecular Genetics
Ningbo Li, Jiaoli Sun, Shanna Guo, Yi Liu, Cong Wang, Changmao Zhu, Xianwei Zhang
RATIONALE: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder characterized by insensitivity to noxious stimulus and the absence of sweating. Fractures and joint destruction are common complications, but detailed studies on mineral and skeletal homeostasis are not available. Mental retardation is often reported, but detailed observations during childhood are lacking. PATIENT CONCERNS: A pair of 46-month-old Chinese identical twin brothers was presented at our hospital...
November 2018: Medicine (Baltimore)
Cinzia M Bellettato, Maurizio Scarpa
The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsible for the degradation of glycosaminoglycans (GAGs). Such enzyme deficiency causes accumulation of GAGs that begins in infancy and progressively worsens, often affecting several organs including the central nervous system (CNS) inducing mental retardation, progressive neurodegeneration, and premature death...
November 16, 2018: Italian Journal of Pediatrics
Z J Gao, Q Jiang, X L Chen, Q Chen, X N Ji, Y Y Mao, S Feng, J J Dong, K M Xu
Objective: To analyze the de novo point mutations in known genes among patients with unexplained intellectual disability (ID) or developmental retardation (DD). Methods: A total of 120 outpatients with ID or DD were recruited in the Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics between September 2015 and April 2017. Target gene sequencing was used to screen the candidate gene. The sequencing data were analyzed by a variety of bioinformatics software. Combining with the phenotypes of the patients, the candidate genetic/genomic variants were identified from next-generation sequencing data...
November 13, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Fang Liu, Weiwei Ruan, Yichun Wang, Xiaoli Lan
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a rare congenital mitochondrial DNA mutation disease. Here, we report a 4-year-old girl, who presented with short stature, mental retardation, and recurrent seizures, underwent simultaneous F-FDG PET/MRI examination. An interesting contradiction images were found on bilateral frontal, left temporal, occipital, and parietal lobes, which were with high blood flow shown on 3D-ASL perfusion images, but low uptake of F-FDG on PET images...
October 27, 2018: Clinical Nuclear Medicine
Rupak Mahendhar, Paria Zarghamravanbakhsh, Maia Natalia Pavlovic, Radu Butuc, Issac Sachmechi
Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. BDMR could be misdiagnosed as Albright hereditary osteodystrophy (AHO), because it presents with lack of hormone resistance to parathyroid hormone (PTH) and similar skeletal and craniofacial abnormalities; however, BDMR is far rarer and can present with a different phenotype. In some cases, BDMR patients exhibit malformations of the internal organs, which could cause life-threatening health issues...
August 21, 2018: Curēus
Ameera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, Ruqaiah Altassan, Mariam Almureikhi, Sara Musa, Nadia Al-Hashmi, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Al-Hassnan, Faiqa Imtiaz, Moeenaldeen Al-Sayed
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol biosynthesis. The cardinal features of HPMRS4 include; characteristic facial features, severe intellectual disability and various neurologic abnormalities. We report here detailed clinical, biochemical, and molecular findings of 14 patients clinically suspected to have HPMRS4, from three Middle-Eastern Countries; Saudi Arabia, Qatar, and Oman. All patients in our series presented with the cardinal features pointing to HPMRS4 and with an elevated alkaline phosphatase level...
October 22, 2018: American Journal of Medical Genetics. Part A
Mattéa J Finelli, Davide Aprile, Enrico Castroflorio, Alexander Jeans, Matteo Moschetta, Lauren Chessum, Matteo T Degiacomi, Julia Grasegger, Alexis Lupien-Meilleur, Andrew Bassett, Elsa Rossignol, Philippe M Campeau, Michael R Bowl, Fabio Benfenati, Anna Fassio, Peter L Oliver
Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) to non-syndromic hearing loss. TBC1D24 has been implicated in neuronal transmission and maturation, although the molecular function of the gene and the cause of the apparently complex disease spectrum remain unclear. Importantly, heterozygous TBC1D24 mutation carriers have also been reported with seizures, suggesting that haploinsufficiency for TBC1D24 is significant clinically...
October 17, 2018: Human Molecular Genetics
Anna Frappaolo, Stefano Sechi, Tadahiro Kumagai, Angela Karimpour-Ghahnavieh, Michael Tiemeyer, Maria Grazia Giansanti
Protein glycosylation, the enzymatic addition of N-linked or O-linked glycans to proteins, serves crucial functions in animal cells and requires the action of glycosyltransferases, glycosidases and nucleotide-sugar transporters, localized in the endoplasmic reticulum and Golgi apparatus. Congenital Disorders of Glycosylation (CDGs) comprise a family of multisystemic diseases caused by mutations in genes encoding proteins involved in glycosylation pathways. CDGs are classified into two large groups. Type I CDGs affect the synthesis of the dolichol-linked Glc3 Man9 GlcNac2 precursor of N-linked glycosylation or its transfer to acceptor proteins...
2018: Frontiers in Genetics
Antonino Crinò, Danilo Fintini, Sarah Bocchini, Graziano Grugni
Prader-Willi syndrome (PWS) is a complex multisystem disorder due to the absent expression of the paternally active genes in the PWS critical region on chromosome 15 (15q11.2-q13). The syndrome is considered the most common genetic cause of obesity, occurring in 1:10,000-1:30,000 live births. Its main characteristics include neonatal hypotonia, poor feeding, and lack of appetite in infancy, followed by weight gain, lack of satiety, and uncontrolled appetite, frequently after the age of 2-3 years. The clinical picture includes short stature, multiple endocrine abnormalities (hypogonadism, growth hormone/insulin-like growth factor-I axis dysfunction, hypothyroidism, central adrenal insufficiency), dysmorphic features, scoliosis, osteoporosis, mental retardation, and behavioral and psychiatric problems...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
Kimberly P Keil, Sunjay Sethi, Machelle D Wilson, Jill L Silverman, Isaac N Pessah, Pamela J Lein
Dendritic morphology is a critical determinant of neuronal connectivity, and calcium signaling plays a predominant role in shaping dendrites. Altered dendritic morphology and genetic mutations in calcium signaling are both associated with neurodevelopmental disorders (NDDs). In this study we tested the hypothesis that dendritic arborization and NDD-relevant behavioral phenotypes are altered by human mutations that modulate calcium-dependent signaling pathways implicated in NDDs. The dendritic morphology of pyramidal neurons in CA1 hippocampus and somatosensory cortex was quantified in Golgi-stained brain sections from juvenile mice of both sexes expressing either a human gain-of-function mutation in ryanodine receptor 1 (T4826I-RYR1), a human CGG repeat expansion (170-200 CGG repeats) in the fragile X mental retardation gene 1 (FMR1 premutation), both mutations (double mutation; DM), or wildtype (WT) mice...
October 12, 2018: Genes, Brain, and Behavior
Kishin Koh, Yuta Ichinose, Hiroyuki Ishiura, Haitian Nan, Jun Mitsui, Junya Takahashi, Wakiro Sato, Yoshiaki Itoh, Kyoko Hoshino, Shoji Tsuji, Yoshihisa Takiyama
PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of hereditary spastic paraplegia (HSP). In this study, we screened 383 HSP families to clarify the frequency of PLA2G6 mutations in the Japan Spastic Paraplegia Research Consortium, and revealed the clinical characteristics of HSP with PLA2G6 mutations...
October 9, 2018: Journal of Human Genetics
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
Sha Sha, Xinna Chen, Min Liu, Aiping Zhou, Yanan Sun, Cunrong Pang, Xu Zhang
OBJECTIVE: To explore the candidate disease causing gene for a case with floppy infant syndrome (FIS). METHODS: Single nucleotide polymorphism array (SNP array) was used for analyzing the whole genome copy number mutations in the proband. Multiple PCR combined with denaturing high performance liquid chromatography (DHPLC) was employed to verify the suspected mutations in the proband and his family members. RESULTS: A large duplication arr [hg19] Xq13...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, Arjan Buijs, Hans Kristian Ploos van Amstel
Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to diagnostic genome laboratories ("one test fits all"). Here, we provide an estimate for the proportion of clinically relevant aberrations identified by light microscopy in postnatal referrals that would go undetected by WGS...
September 21, 2018: European Journal of Medical Genetics
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