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Journal articles on the topic '16p11.2'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Li, Jingling, Thomas Brickler, Allison Banuelos, et al. "Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome." Proceedings of the National Academy of Sciences 118, no. 15 (2021): e2005483118. http://dx.doi.org/10.1073/pnas.2005483118.

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Copy number variation (CNV) at the 16p11.2 locus is associated with neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can manifest in opposing head sizes. Carriers of 16p11.2 deletion tend to have macrocephaly (or brain enlargement), while those with 16p11.2 duplication frequently have microcephaly. Increases in both gray and white matter volume have been observed in brain imaging studies in 16p11.2 deletion carriers with macrocephaly. Here, we use human induced pluripotent stem cells (hiPSCs) derived from controls and subjects with 16p11.2 de

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2

Chu, Caleb, Haotian Wu, Fangling Xu, et al. "Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution." Laboratory Medicine 51, no. 6 (2020): 642–48. http://dx.doi.org/10.1093/labmed/lmaa026.

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Abstract Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1–BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on 16p11.2 include a proximal ~593 kb between BP4 and BP5, and a distal ~220 kb between BP2 and BP3. We performed a search for patients carrying 16p11.2 CNVs, as detected using chromosome microarray (CMA), in the Molecular Diagnostic Laboratory at the University of Texas Medical Branch (UTMB), in Galves

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3

Chung, Wendy K., Timothy PL Roberts, Elliott H. Sherr, LeeAnne Green Snyder, and John E. Spiro. "16p11.2 deletion syndrome." Current Opinion in Genetics & Development 68 (June 2021): 49–56. http://dx.doi.org/10.1016/j.gde.2021.01.011.

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4

Sadler, Brooke, Gabe Haller, Lilian Antunes, et al. "Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis." Journal of Medical Genetics 56, no. 7 (2019): 427–33. http://dx.doi.org/10.1136/jmedgenet-2018-105877.

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IntroductionAdolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important role in congenital scoliosis, but their role in idiopathic scoliosis has been largely unexplored.MethodsExome sequence data from 1197 AIS cases and 1664 in-house controls was analysed using coverage data to identify rare CNVs. CNV calls were filtered to include only highly confident CNVs with >10 average reads per region and mean log-ratio of coverage consistent with single-copy duplication or deletion. The frequency of 55 common recu

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5

Posar, Annio, and Paola Visconti. "Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series." Children 7, no. 10 (2020): 190. http://dx.doi.org/10.3390/children7100190.

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Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotype of these patients are few. We described a sample of children with duplication of chromosome 16p11.2 focusing on the neuro-behavioral phenotype. The five patients reported presented with very heterogeneous conditions as for characteristics and severity, ranging from a learning disorder in a child with normal intelligence quotient to an autism spec

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6

Levkova, Mariya, Milena Stoyanova, Rada Staneva, Mari Hachmeriyan, and Lyudmila Angelova. "16p11.2 Duplication Syndrome - a Case Report." Folia Medica 63, no. 1 (2021): 138–41. http://dx.doi.org/10.3897/folmed.63.e52763.

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16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation &ndash; slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic muta

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7

Redaelli, Serena, Silvia Maitz, Francesca Crosti, et al. "Refining the Phenotype of Recurrent Rearrangements of Chromosome 16." International Journal of Molecular Sciences 20, no. 5 (2019): 1095. http://dx.doi.org/10.3390/ijms20051095.

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Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at

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8

Blizinsky, Katherine D., Blanca Diaz-Castro, Marc P. Forrest, et al. "Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub." Proceedings of the National Academy of Sciences 113, no. 30 (2016): 8520–25. http://dx.doi.org/10.1073/pnas.1607014113.

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The architecture of dendritic arbors contributes to neuronal connectivity in the brain. Conversely, abnormalities in dendrites have been reported in multiple mental disorders and are thought to contribute to pathogenesis. Rare copy number variations (CNVs) are genetic alterations that are associated with a wide range of mental disorders and are highly penetrant. The 16p11.2 microduplication is one of the CNVs most strongly associated with schizophrenia and autism, spanning multiple genes possibly involved in synaptic neurotransmission. However, disease-relevant cellular phenotypes of 16p11.2 m

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9

Barber, John C. K., Victoria Hall, Viv K. Maloney, et al. "16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2." European Journal of Human Genetics 21, no. 2 (2012): 182–89. http://dx.doi.org/10.1038/ejhg.2012.144.

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10

Kumar, R. A., S. KaraMohamed, J. Sudi, et al. "Recurrent 16p11.2 microdeletions in autism." Human Molecular Genetics 17, no. 4 (2007): 628–38. http://dx.doi.org/10.1093/hmg/ddm376.

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11

Matsuzaki, Junko, Jeffrey I. Berman, Lisa Blaskey, et al. "Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication." Biological Psychiatry: Cognitive Neuroscience and Neuroimaging 5, no. 10 (2020): 942–50. http://dx.doi.org/10.1016/j.bpsc.2019.11.005.

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12

Donner, L. R., T. Silva, and S. M. Dobin. "Clonal rearrangement of 15p11.2, 16p11.2, and 16p13.3 in a case of nodular fasciitis." Cancer Genetics and Cytogenetics 139, no. 2 (2002): 138–40. http://dx.doi.org/10.1016/s0165-4608(02)00613-1.

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13

Oliva-Teles, Natália, Maria Chiara de Stefano, Louise Gallagher, et al. "Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature." International Journal of Environmental Research and Public Health 17, no. 24 (2020): 9253. http://dx.doi.org/10.3390/ijerph17249253.

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Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature revi

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14

Stingl, Cybil S., Colleen Jackson-Cook, and Natario L. Couser. "Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review." Case Reports in Pediatrics 2020 (April 20, 2020): 1–5. http://dx.doi.org/10.1155/2020/2031701.

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The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Abnormalities of the eye and ocular adnexa are also commonly associated findings seen in individuals with the 16p11.2 microdeletion syndrome, although these ophthalmic manifestations have not been well characterized. We conducted an extensive literature review to highlight the eye features in patients with the 16p11.2

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15

Ren, Xiaojun, Nan Yang, Nan Wu, et al. "Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice." Journal of Medical Genetics 57, no. 6 (2019): 371–79. http://dx.doi.org/10.1136/jmedgenet-2019-106333.

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BackgroundCongenital vertebral malformations (CVMs) manifest with abnormal vertebral morphology. Genetic factors have been implicated in CVM pathogenesis, but the underlying pathogenic mechanisms remain unclear in most subjects. We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused CVMs. We aim to investigate the reciprocal 16p11.2 BP4-BP5 duplication and its potential genetic contributions to CVMs.Methods and resultsPatients who were found to carry the 16p11.2 BP4-BP5 duplication by chromosomal microarray analysis were retrospectively a

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16

Li, Zhi, Xi He, and Jiexiong Feng. "16p11.2 is required for neuronal polarity." World Journal of Neuroscience 03, no. 04 (2013): 221–27. http://dx.doi.org/10.4236/wjns.2013.34029.

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17

Egolf, Laura E., Zalman Vaksman, Gonzalo Lopez, et al. "Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma." American Journal of Human Genetics 105, no. 3 (2019): 658–68. http://dx.doi.org/10.1016/j.ajhg.2019.07.020.

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18

Jenkins, Julian, Vivian Chow, Lisa Blaskey, et al. "Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication." Cerebral Cortex 26, no. 5 (2015): 1957–64. http://dx.doi.org/10.1093/cercor/bhv008.

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19

Lai, Wenjing, Xin Feng, Ming Yue, et al. "Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis." Genes 12, no. 8 (2021): 1213. http://dx.doi.org/10.3390/genes12081213.

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Congenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5–10% of the affected cases. Here, we studied the genetic etiology of CS by analyzing CNVs in a cohort of 67 patients with congenital hemivertebrae and 125 family controls. We employed both candidate gene

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20

Rein, Benjamin, and Zhen Yan. "16p11.2 Copy Number Variations and Neurodevelopmental Disorders." Trends in Neurosciences 43, no. 11 (2020): 886–901. http://dx.doi.org/10.1016/j.tins.2020.09.001.

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21

Poot, Martin. "Syndromes Hidden within the 16p11.2 Deletion Region." Molecular Syndromology 9, no. 4 (2018): 171–74. http://dx.doi.org/10.1159/000490845.

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22

Termsarasab, Pichet, Amy C. Yang, Jennifer Reiner, Hui Mei, Stuart A. Scott, and Steven J. Frucht. "Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion." Tremor and Other Hyperkinetic Movements 4 (November 17, 2014): 274. http://dx.doi.org/10.5334/tohm.212.

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23

Puvabanditsin, Surasak, Michael S. Nagar, Meera Joshi, George Lambert, Eugene Garrow, and Erik Brandsma. "Microdeletion of 16p11.2 associated with endocardial fibroelastosis." American Journal of Medical Genetics Part A 152A, no. 9 (2010): 2383–86. http://dx.doi.org/10.1002/ajmg.a.33562.

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24

McCarthy, Shane E., Vladimir Makarov, George Kirov, et al. "Microduplications of 16p11.2 are associated with schizophrenia." Nature Genetics 41, no. 11 (2009): 1223–27. http://dx.doi.org/10.1038/ng.474.

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25

Rodà, Diana, Elisabeth Gabau, Neus Baena, and Miriam Guitart. "Phenotype variability in thirteen 16p11.2 deletion patients." Anales de Pediatría (English Edition) 89, no. 1 (2018): 62–63. http://dx.doi.org/10.1016/j.anpede.2017.08.007.

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26

Moreau, Clara, Sebastian Urchs, Simons Variation in Individuals Project Consortium, et al. "ALTERED BRAIN CONNECTIVITY IN PATIENTS WITH 16P11.2." European Neuropsychopharmacology 29 (2019): S895—S896. http://dx.doi.org/10.1016/j.euroneuro.2017.08.206.

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27

Pizzo, Lucilla, Micaela Lasser, Tanzeen Yusuff, et al. "Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis." PLOS Genetics 17, no. 4 (2021): e1009112. http://dx.doi.org/10.1371/journal.pgen.1009112.

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We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents. We hypothesized that the 16p12.1 deletion sensitizes the genome for disease, while “second-hits” in the genetic background modulate the phenotypic trajectory. To test this model, we examined how neurodevelopmental defects conferred by knockdown of individual 16p12.1 homologs are modulated by simultaneous knockdown of homologs of “sec

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28

Verhoeven, W., J. I. M. Egger, W. Verbeeck, and N. De Leeuw. "EPA-0226 – Neuropsychological phenotype of 16p11.2 microdeletion syndrome." European Psychiatry 29 (2014): 1. http://dx.doi.org/10.1016/s0924-9338(14)77680-1.

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29

Steinberg, S., S. de Jong, M. Mattheisen, et al. "Common variant at 16p11.2 conferring risk of psychosis." Molecular Psychiatry 19, no. 1 (2012): 108–14. http://dx.doi.org/10.1038/mp.2012.157.

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30

Hanson, Ellen, Ramzi H. Nasir, Alexa Fong, et al. "Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome." Journal of Developmental & Behavioral Pediatrics 31, no. 8 (2010): 649–57. http://dx.doi.org/10.1097/dbp.0b013e3181ea50ed.

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31

Hempel, Maja, Nuria Rivera Brugués, Janine Wagenstaller, et al. "Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization." American Journal of Medical Genetics Part A 149A, no. 10 (2009): 2106–12. http://dx.doi.org/10.1002/ajmg.a.33042.

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32

Lin, Shaobin, Shanshan Shi, Yi Zhou, et al. "Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions." Prenatal Diagnosis 38, no. 6 (2018): 381–89. http://dx.doi.org/10.1002/pd.5245.

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33

Kim, So Hyun, LeeAnne Green‐Snyder, Catherine Lord, et al. "Language characterization in 16p11.2 deletion and duplication syndromes." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 183, no. 6 (2020): 380–91. http://dx.doi.org/10.1002/ajmg.b.32809.

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34

Jutla, Amandeep, J. Blake Turner, LeeAnne Green Snyder, Wendy K. Chung, and Jeremy Veenstra‐VanderWeele. "Psychotic symptoms in 16p11.2 copy‐number variant carriers." Autism Research 13, no. 2 (2019): 187–98. http://dx.doi.org/10.1002/aur.2232.

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35

Papapetrou, Charalambos, Wendy Putt, Margaret Fox, and Yvonne H. Edwards. "The HumanTBX6Gene: Cloning and Assignment to Chromosome 16p11.2." Genomics 55, no. 2 (1999): 238–41. http://dx.doi.org/10.1006/geno.1998.5646.

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36

Knoll, Martin, Kirsten Arnett, and Jeremy Hertza. "16p11.2 Microduplication and associated symptoms: A case study." Applied Neuropsychology: Child 7, no. 4 (2017): 374–79. http://dx.doi.org/10.1080/21622965.2017.1326046.

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37

Tsurusawa, Reimi, Yukiko Ihara, Atsushi Ogawa, and Toshiyuki Yamamoto. "16p11.2 Microdeletion/Microduplication Syndrome and Benign Infantile Epilepsy." Journal of Pediatric Epilepsy 04, no. 01 (2015): 035–40. http://dx.doi.org/10.1055/s-0035-1554790.

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38

Rodà, Diana, Elisabeth Gabau, Neus Baena, and Miriam Guitart. "Variabilidad fenotípica en 13 casos de deleción 16p11.2." Anales de Pediatría 89, no. 1 (2018): 62–63. http://dx.doi.org/10.1016/j.anpedi.2017.08.003.

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39

Penzes, Peter, Jeffrey Savas, and Marc Forrest. "16. Synaptic Mechanisms in 16p11.2 Duplication Model Mice." Biological Psychiatry 83, no. 9 (2018): S6—S7. http://dx.doi.org/10.1016/j.biopsych.2018.02.033.

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40

Barber, J. C. K., C. Brasch-Andersen, V. K. Maloney, et al. "A Novel Pseudo-Dicentric Variant of 16p11.2q11.2 Contains Euchromatin from 16p11.2p11.1 and Resembles Pathogenic Duplications of Proximal 16q." Cytogenetic and Genome Research 139, no. 1 (2013): 59–64. http://dx.doi.org/10.1159/000342542.

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41

Calderoni, Sara, Ivana Ricca, Giulia Balboni, et al. "Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study." Journal of Personalized Medicine 10, no. 4 (2020): 160. http://dx.doi.org/10.3390/jpm10040160.

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Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to eva

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42

Uddin, KM Furkan, Md Robed Amin, Nasima Sultana, et al. "Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort." Bangladesh Journal of Medicine 30, no. 1 (2019): 24–29. http://dx.doi.org/10.3329/bjmed.v30i1.39919.

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Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Due to long term impairment, high genetic component (heritability> 90%), lack of effective prevention and treatment, ASD has been prioritized for genetic studies. Studies on Copy Number Variations (CNV) at chromosome 16p11.2 locus have mostly been conducted in population of pure or predominant European ancestry. It is not known whether this is also prevalent among the ASD affected individuals in population of other ancestries such as Bangladeshi population. The aim of this research work is to detect CNV of SEZ6L2

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43

Stockman, J. A. "Association between Microdeletion and Microduplication at 16p11.2 and Autism." Yearbook of Pediatrics 2009 (January 2009): 374–75. http://dx.doi.org/10.1016/s0084-3954(08)79060-2.

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44

Tomita, Hiro-aki, Shinichiro Nagamitsu, Keiko Wakui, et al. "Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1." American Journal of Human Genetics 65, no. 6 (1999): 1688–97. http://dx.doi.org/10.1086/302682.

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45

Kostopoulou, Eirini, Antonia Dastamani, Silvana Caiulo, Hannah Antell, Sarah E. Flanagan, and Pratik Shah. "Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome." Clinical Endocrinology 90, no. 5 (2019): 766–69. http://dx.doi.org/10.1111/cen.13951.

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46

Kumar, Ravinesh A., Christian R. Marshall, Judith A. Badner, et al. "Association and Mutation Analyses of 16p11.2 Autism Candidate Genes." PLoS ONE 4, no. 2 (2009): e4582. http://dx.doi.org/10.1371/journal.pone.0004582.

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47

Weiss, Lauren A., Yiping Shen, Joshua M. Korn, et al. "Association between Microdeletion and Microduplication at 16p11.2 and Autism." New England Journal of Medicine 358, no. 7 (2008): 667–75. http://dx.doi.org/10.1056/nejmoa075974.

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48

Masuno, Mitsuo, Takuma Ishii, Yukichi Tanaka, et al. "De novo trisomy 16p11.2-qter: Report of an infant." American Journal of Medical Genetics 92, no. 5 (2000): 308–10. http://dx.doi.org/10.1002/1096-8628(20000619)92:5<308::aid-ajmg3>3.0.co;2-6.

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49

Wallace, Arianne S., Caitlin M. Hudac, Kyle J. Steinman, et al. "Longitudinal report of child with de novo 16p11.2 triplication." Clinical Case Reports 6, no. 1 (2017): 147–54. http://dx.doi.org/10.1002/ccr3.1236.

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50

Qureshi, A. Y., S. Mueller, A. Z. Snyder, et al. "Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers." Journal of Neuroscience 34, no. 34 (2014): 11199–211. http://dx.doi.org/10.1523/jneurosci.1366-14.2014.

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