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https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#1
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29321672/phenotypic-interpretation-of-complex-chromosomal-rearrangements-informed-by-nucleotide-level-resolution-and-structural-organization-of-chromatin
#2
Cinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, David J Harris, Helen Cox, Claire Redin, Zehra Ordulu, Michael E Talkowski, Cynthia C Morton
Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15)...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29321200/bilateral-haemorrhagic-basal-ganglia-infarction-associated-with-early-onset-group-b-streptococcus-meningitis
#3
Rajesh Gupta, Taiwo Maraiyesa, Brendon Conry
A 2-day-old infant presented with poor feeding and grunting. Investigations revealed a raised C reactive protein of 164. Full septic screen was done, which subsequently confirmed a diagnosis of group B streptococcus meningitis. Baby was apyrexial and haemodynamically stable. There were no obvious neurological manifestations, and a routine cranial ultrasound scan was done, which revealed echogenic changes in the basal ganglia and thalami. MRI brain showed extensive haemorrhagic infarction within the lentiform and caudate nuclei with involvement of both posterior limbs of the internal capsule...
January 9, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29305004/translational-control-of-the-myogenic-program-in-developing-regenerating-and-diseased-skeletal-muscle
#4
Ryo Fujita, Colin Crist
Translational control of genes that code for protein allows a cell to rapidly respond to changes in its environment, in part because translational control of gene expression does not depend on upstream events required to produce an mRNA molecule. The importance of translational control has been highlighted by studies concerning muscle development, regeneration, and disease. Translational control of specific mRNAs is achieved by microRNAs and RNA-binding proteins, which are particularly relevant to developmental myogenesis, where they ensure the stepwise differentiation of multipotent progenitors to committed myogenic progenitors that ultimately fuse into slow- or fast-type myofibers that make up skeletal muscle...
2018: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/29301000/developmental-defects-associated-with-dna-copy-number-gain-of-chromosome-2q33-1-a-case-report-and-review-of-literature
#5
Akshaya Gupta, Jacob Yo, Gengming Huang, Lynn Soong, Jianli Dong
Caspases play a vital role during apoptosis. In addition to apoptosis, caspases play a role in cytokine gene induction and work to inhibit apoptosis. In order for individuals to thrive with useful tissue growth, the rate of cell growth and division must surpass the rate of cell division. It is well established that excessive cell death of embryonic cells is a vital process occurring before structural abnormalities, regardless of their nature. Here we describe a 13-month-old male patient with a 4.7Mb interstitial duplication of chromosome 2q33...
December 29, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29299107/the-missing-link-a-case-of-absent-pituitary-infundibulum-and-ectopic-neurohypophysis-in-a-pediatric-patient-with-heterotaxy-syndrome
#6
Adil Omer, Dana Haddad, Leszek Pisinski, Alan V Krauthamer
We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements...
September 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#7
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29280527/the-effects-of-superovulation-and-reproductive-aging-on-the-epigenome-of-the-oocyte-and-embryo
#8
REVIEW
Kira Lynn Marshall, Rocío Melissa Rivera
A societal preference of delaying maternal age at first childbirth has increased reliance on assisted reproductive technologies/therapies (ART) to conceive a child. Oocytes that have undergone physiologic aging (≥35 years for humans) are now commonly used for ART, yet evidence is building that suboptimal reproductive environments associated with aging negatively affect oocyte competence and embryo development - although the mechanisms underlying these relationship are not yet well understood. Epigenetic programming of the oocyte occurs during its growth within a follicle, so the ovarian stimulation protocols that administer exogenous hormones, as part of the first step for all ART procedures, may prevent the gamete from establishing an appropriate epigenetic state...
December 27, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29274882/neurodevelopment-and-behavior-in-neonatal-oxys-rats-with-genetically-determined-accelerated-senescence
#9
Tatyana N Igonina, Diana S Ragaeva, Maria A Tikhonova, Olga M Petrova, Yuri E Herbeck, Irina N Rozhkova, Tamara G Amstislavskaya, Sergey Ya Amstislavsky
Study of the developmental characteristics and mechanisms of senescence is an important field in brain aging research. The OXYS strain was selected from Wistar rats in Novosibirsk, and it serves as a rat model of accelerated aging. Previously, neurodegenerative processes and aberrant behavior were reported in experiments with adult OXYS rats. In our study, neurodevelopmental reflexes, neuronal density in the prefrontal cortex and hippocampus, and global DNA methylation in the hippocampus are compared between OXYS and WAG (Wistar Albino Glaxo) neonatal pups...
December 21, 2017: Brain Research
https://www.readbyqxmd.com/read/29261708/delayed-processing-of-global-shape-information-in-developmental-prosopagnosia
#10
Christian Gerlach, Solja K Klargaard, Anders Petersen, Randi Starrfelt
There is accumulating evidence suggesting that a central deficit in developmental prosopagnosia (DP), a disorder characterized by profound and lifelong difficulties with face recognition, concerns impaired holistic processing. Some of this evidence comes from studies using Navon's paradigm where individuals with DP show a greater local or reduced global bias compared with controls. However, it has not been established what gives rise to this altered processing bias. Is it a reduced global precedence effect, changes in susceptibility to interference effects or both? By analyzing the performance of 10 individuals with DP in Navon's paradigm we find evidence of a reduced global precedence effect: The DPs are slower than controls to process global but not local shape information...
2017: PloS One
https://www.readbyqxmd.com/read/29247375/a-novel-mutation-in-lamc3-associated-with-generalized-polymicrogyria-of-the-cortex-and-epilepsy
#11
J L Zambonin, D A Dyment, Y Xi, R E Lamont, T Hartley, E Miller, M Kerr, K M Boycott, J S Parboosingh, S Venkateswaran
Occipital cortical malformation is a rare neurodevelopmental disorder characterized by pachygyria and polymicrogyria of the occipital lobes as well as global developmental delays and seizures. This condition is due to biallelic, loss-of-function mutations in LAMC3 and has been reported in four unrelated families to date. We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation in LAMC3: c...
December 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29230160/whole-exome-sequencing-identifies-a-de-novo-ahdc1-mutation-in-a-colombian-patient-with-xia-gibbs-syndrome
#12
Mary García-Acero, Johanna Acosta
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identified a de novo AHDC1 frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents. Furthermore, we summarized the phenotypes of patients reported in the literature.
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29219962/predictors-of-long-term-neurological-outcomes-in-non-accidental-head-injury
#13
C F Chong, S L Misra, J A Escardo-Paton, S Dai
BackgroundNon-accidental head injury (NAI) is an inflicted injury usually on a child, often resulting in long-term neurological impairment and occasionally death. This study aimed to investigate the predictive values of acute findings, especially ocular, for long-term neurological outcomes.MethodsMedical records including retinal images of all children who attended the local Children's hospital with a diagnosis of NAI from over a period of 5 years were reviewed and data collected via the electronic patient record system...
December 8, 2017: Eye
https://www.readbyqxmd.com/read/29209992/cost-effectiveness-of-karyotyping-chromosomal-microarray-analysis-and-targeted-next-generation-sequencing-of-patients-with-unexplained-global-developmental-delay-or-intellectual-disability
#14
Yonghong Li, Lori A Anderson, Edward I Ginns, James J Devlin
BACKGROUND: Genetic diagnosis of unexplained global developmental delay and intellectual disability (GDD/ID) often ends the diagnostic odyssey and can lead to changes in clinical management. OBJECTIVE: The objective of this study was to investigate the cost effectiveness of testing scenarios involving several methods used to diagnose GDD/ID: karyotyping, chromosomal microarray analysis (CMA), and targeted next-generation sequencing (NGS). METHODS: We used decision-tree models to estimate the number of genetic diagnoses, the cost from a payers' perspective in the USA, and the incremental cost per additional genetic diagnosis...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29196358/a-clinical-approach-to-developmental-delay-and-intellectual-disability
#15
Pradeep Vasudevan, Mohnish Suri
Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability.
December 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29193829/riboflavin-transporter-deficiency-mimicking-mitochondrial-myopathy-caused-by-complex-ii-deficiency
#16
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Andrews
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss...
November 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29166388/associations-between-thyroid-dysfunction-and-developmental-status-in-children-with-excessive-iodine-status
#17
Inger Aakre, Tor A Strand, Khalil Moubarek, Ingrid Barikmo, Sigrun Henjum
BACKGROUND AND OBJECTIVE: Adequate iodine status and normal thyroid hormone synthesis are important for optimal child development. In this study, we explored whether young children's developmental status is associated with thyroid dysfunction in an area of chronic excessive iodine exposure. METHODS: We included 298 children between 18 and 48 months of age residing in Algerian refugee camps. Early child development was measured using the Ages and Stages Questionnaires, third edition (ASQ-3), consisting of five domains: Communication, Gross Motor, Fine Motor, Problem Solving and Personal-Social...
2017: PloS One
https://www.readbyqxmd.com/read/29162653/de-novo-variants-in-ebf3-are-associated-with-hypotonia-developmental-delay-intellectual-disability-and-autism
#18
Akemi J Tanaka, Megan T Cho, Rebecca Willaert, Kyle Retterer, Yuri A Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K Gabriel, Ilse J Anderson, Maria J Guillen Sacoto, Rhonda E Schnur, Wendy K Chung
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons...
November 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29158440/cohesin-facilitates-zygotic-genome-activation-in-zebrafish
#19
Michael Meier, Jenny Grant, Amy Dowdle, Amarni Thomas, Jennifer Gerton, Philippe Collas, Justin M O'Sullivan, Julia A Horsfield
At zygotic genome activation (ZGA), changes in chromatin structure are associated with new transcription immediately following the maternal-to-zygotic transition (MZT). The nuclear architectural proteins, cohesin and CCCTC-binding factor (CTCF), contribute to chromatin structure and gene regulation. We show here that normal cohesin function is important for ZGA in zebrafish. Depletion of cohesin subunit Rad21 delays ZGA without affecting cell cycle progression. In contrast, CTCF depletion has little effect on ZGA whereas complete abrogation is lethal...
November 20, 2017: Development
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#20
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
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