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Aleš Maver, Goran Čuturilo, Anja Kovanda, Aleksandra Miletić, Borut Peterlin
Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP5 gene in a patient with primary microcephaly and mild developmental delay. The TUBCGP5 gene (tubulin gamma complex associated protein 5) is a paralog of TUBGCP4 and TUBGCP6, both of which are known MCPH associated genes, and like its' paralogs, is involved in centrosome formation...
December 10, 2018: European Journal of Medical Genetics
K Naga Mohan, Ye Cao, Justin Pham, Sau Wai Cheung, Lori Hoffner, Z Zishuo Ou, Urvashi Surti, Edwin H Cook, Arthur L Beaudet
In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures)...
December 12, 2018: Journal of Human Genetics
Yuka Sato, Shigeo Okabe
Circuit-level alternations in patients of autism spectrum disorder (ASD) is under active investigation and detailed characterization of synapse morphology in ASD model mice should be informative. We utilized focused ion beam milling and scanning electron microscopy (FIB-SEM) to obtain three-dimensional images of synapses in the layer 2/3 of the somatosensory cortex from a mouse model for ASD with human 15q11-13 chromosomal duplication (15q dup mice). We found a trend of higher spine density and a higher fraction of astrocytic contact with both spine and shaft synapses in 15q dup mice...
October 29, 2018: Microscopy
Joanne L Griggs, Michael L Mathai, Puspha Sinnayah
INTRODUCTION: In Prader-Willi syndrome (PWS), nonprotein coding small nucleolar (sno) RNAs are involved in the paternally deleted region of chromosome 15q11.2-q13, which is believed to cause the hyperphagic phenotype of PWS. Central to this is SnoRNA116. The supplement Caralluma fimbriata extract (CFE) has been shown to decrease appetite behavior in some individuals with PWS. We therefore investigated the mechanism underpinning the effect of CFE on food intake in the Snord116del mouse...
October 23, 2018: Brain and Behavior
Devis Pascut, Sofia Tamini, Silvia Bresolin, Pablo Giraudi, Giuseppe Basso, Alessandro Minocci, Claudio Tiribelli, Graziano Grugni, Alessandro Sartorio
Prader-Willi syndrome (PWS) represents the most common genetic-derived obesity disorder caused by the loss of expression of genes located on the paternal chromosome 15q11.2-q13. The PWS phenotype shows peculiar physical, endocrine and metabolic characteristics compared to those observed in non-syndromic essential obesity. Since miRNAs have now a well-established role in many molecular pathways, including regulatory networks related to obesity, this pilot study was aimed to characterize the expression of circulating miRNAs in PWS compared to essential obesity...
December 1, 2018: Endocrine Connections
Florian Zink, Droplaug N Magnusdottir, Olafur T Magnusson, Nicolas J Walker, Tiffany J Morris, Asgeir Sigurdsson, Gisli H Halldorsson, Sigurjon A Gudjonsson, Pall Melsted, Helga Ingimundardottir, Snædis Kristmundsdottir, Kristjan F Alexandersson, Anna Helgadottir, Julius Gudmundsson, Thorunn Rafnar, Ingileif Jonsdottir, Hilma Holm, Gudmundur Ingi Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Gisli Masson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Bjarni V Halldorsson, Simon N Stacey, Kari Stefansson
Imprinting is the preferential expression of one parental allele over the other. It is controlled primarily through differential methylation of cytosine at CpG dinucleotides. Here we combine 285 methylomes and 11,617 transcriptomes from peripheral blood samples with parent-of-origin phased haplotypes, to produce a new map of imprinted methylation and gene expression patterns across the human genome. We demonstrate how imprinted methylation is a continuous rather than a binary characteristic. We describe at high resolution the parent-of-origin methylation pattern at the 15q11...
November 2018: Nature Genetics
Chih-Ping Chen, Shu-Yuan Chang, Liang-Kai Wang, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUGR) on prenatal ultrasound. CASE REPORT: A 30-year-old, gravida 3, para 2, woman was referred to the hospital for amniocentesis because of fetal ventriculomegaly on prenatal ultrasound. Her husband was 31 years old. The couple had two healthy daughters, and there was no family history of mental disorders and congenital malformations...
October 2018: Taiwanese Journal of Obstetrics & Gynecology
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
Ilária C Sgardioli, Elaine Lustosa-Mendes, Ana P Dos Santos, Társis P Vieira, Vera L Gil-da-Silva-Lopes
A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] 15q11.2 (22770421_23282798)×1,19p13.3(3793904_4816330)×1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders...
October 9, 2018: Cytogenetic and Genome Research
Işık Görker, Hakan Gürkan, Selma Ulusal, Engin Atli, Güçlü Ayaz, Cansın Ceylan, Hilmi Tozkir, Mengühan Araz Altay, Ali Erol, Nazike Yildiz, Ceren Direk, Hilal Akköprü, Neriman Kilit, Hasan Cem Aykutlu, Leyla Bozatli, Zeki Çelik, Kıvanç Kudret Berberoğlu
Aim: The development of whole-genome screening methodologies for the detection of copy number variations (CNVs), such as array-based comparative genomic hybridization (aCHG), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduplication syndromes often associated with an autism spectrum disease (ASD) phenotype. The aim of the study was to determine CNVs of patients with ASD by using array-based comparative genomic hybridization...
September 2018: Noro Psikiyatri Arsivi
Yuko Arioka, Itaru Kushima, Daisuke Mori, Norio Ozaki
Duplications at the 15q11.2-q13.1 region are associated with psychiatric disorders such as developmental delay and autism spectrum disorder. However, the specific influence of these duplications on human neuronal cells remains unclear. Here we generated induced pluripotent stem cells (iPSCs) derived from a patient with 15q11.2-q13.1 duplication syndrome. The generated iPSCs carried 15q11.2-q13.1 duplication and showed typical iPSC morphology and pluripotency marker expression, and the capacity to differentiate into three germ layers...
August 2018: Stem Cell Research
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Sadamitsu Yanagi, Hideaki Ueda, Kenji Kurosawa
A 15q11.2 microdeletion (BP1-BP2) is associated with congenital heart diseases (CHDs), developmental delay, and epilepsy. This deletion co-occurs with CHD in 20-30% patients, but a familial case of CHD and a 15q11.2 deletion has not been identified. Here we report the first familial (three siblings) case of total anomalous pulmonary venous return associated with 15q11.2 deletion. Array comparative genomic hybridization identified a ~395 kb deletion at 15q11.2 in patient 1. This deletion was confirmed by fluorescence in situ hybridization in patients 1 and 3 and their asymptomatic father...
November 2018: Journal of Human Genetics
Linyan Wang, Jun Li, Mei Shuang, Tianlan Lu, Ziqi Wang, Tian Zhang, Weihua Yue, Meixiang Jia, Yanyan Ruan, Jing Liu, Zhiliu Wu, Dai Zhang, Lifang Wang
Cytogenetic studies suggested that chromosome 15q11-q13 might be a candidate region that increases the risk of autism. Previous association studies in Caucasian populations identified the risk variants of genes in this region. However, the association of these genes with autism in Chinese Han population remains unclear. Herein, 512 autism trios were utilized for a family-based association study of 41 tag single nucleotide polymorphisms (SNPs) in this region to explore the association between protein-coding genes on chromosome 15q11-q13 and autism in Chinese Han population...
August 14, 2018: Translational Psychiatry
Jarek Wegiel, W Ted Brown, Giuseppe La Fauci, Tatyana Adayev, Richard Kascsak, Regina Kascsak, Michael Flory, Wojciech Kaczmarski, Izabela Kuchna, Krzysztof Nowicki, Veronica Martinez-Cerdeno, Thomas Wisniewski, Jerzy Wegiel
Fragile X syndrome (FXS), caused by lack of fragile X mental retardation protein (FMRP), is associated with a high prevalence of autism. The deficit of FMRP reported in idiopathic autism suggests a mechanistic overlap between FXS and autism. The overall goal of this study is to detect neuropathological commonalities of FMRP deficits in the brains of people with idiopathic autism and with syndromic autism caused by dup15q11.2-q13 (dup15). This study tests the hypothesis based on our preliminary data that both idiopathic and syndromic autism are associated with brain region-specific deficits of neuronal FMRP and structural changes of the affected neurons...
October 2018: Autism Research: Official Journal of the International Society for Autism Research
Ambra Rizzo, Enrico Alfei, Federica Zibordi, Veronica Saletti, Giovanna Zorzi, Elena Freri, Margherita Estienne, Vita Girgenti, Stefano D'Arrigo, Silvia Esposito, Barbara Buldrini, Isabella Moroni, Donatella Milani, Tiziana Granata, Anna Ardissone, Marica Eoli, Bruna Molteni, Stefania Bigoni, Chiara Pantaleoni, Nardo Nardocci, Francesca Luisa Sciacca
The presence of redundant copy number variants (CNVs) in groups of patients with neurological diseases suggests that these variants could have pathogenic effect. We have collected array comparative genomic hybridization (CGH) data of about 2,500 patients affected by neurocognitive disorders and we observed that CNVs in 2p16.3 locus were as frequent as those in 15q11.2, being both the most frequent unbalances in our cohort of patients. Focusing to 2p16.3 region, unbalances involving NRXN1 coding region have been already associated with neuropsychiatric disorders, although with incomplete penetrance, but little is known about CNVs located proximal to the gene, in the long noncoding RNA AK127244...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
M C Barros-Filho, L A Reis-Rosa, M Hatakeyama, F A Marchi, T Chulam, C Scapulatempo-Neto, U R Nicolau, A L Carvalho, C A L Pinto, S A Drigo, L P Kowalski, S R Rogatto
OBJECTIVES: To identify potential molecular drivers associated with prognosis and response to treatment in advanced oropharyngeal squamous cell carcinomas (OPSCC). MATERIALS AND METHODS: Thirty-three OPSCC biopsies from untreated Brazilian patients were evaluated for human papilloma virus genotyping, genome wide copy number alterations and gene expression profiling. Data were integrated using CONEXIC algorithm. Validation with TCGA dataset and confirmation by RT-qPCR of candidate genes were performed...
August 2018: Oral Oncology
Ken C Pang, Debi Feldman, Ralph Oertel, Michelle Telfer
Purpose: The presence of a disorder of sexual development (DSD) acts as a diagnostic specifier for gender dysphoria (GD) under DSM-5, while the International Classification of Diseases (ICD)-10 specifically states that its equivalent diagnosis, gender identity disorder (GID), must not be the result of a chromosomal abnormality. For these reasons, routine karyotyping has been previously advocated in the clinical work-up of children and adolescents with suspected GD or GID. However, the utility of such testing remains unclear...
2018: Transgender Health
Emma K Baker, David E Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J Amor, Lesley Bretherton
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment...
August 6, 2018: Journal of Neurodevelopmental Disorders
Talia Eldar-Geva, Varda Gross-Tsur, Harry J Hirsch, Gheona Altarescu, Reeval Segal, Sharon Zeligson, Eliahu Golomb, Silvina Epsztejn-Litman, Rachel Eiges
BACKGROUND: Prader-Willi syndrome (PWS) is a multisystem genetic disorder characterized by lack of satiety leading to morbid obesity, variable degrees of mental retardation, behavior disorders, short stature, and hypogonadism. The underlying genetic cause for PWS is an imprinting defect resulting from a lack of expression of several paternally inherited genes embedded within the 15q11.2-q13 region. Although the clinical expression of hypogonadism in PWS is variable, there are no known cases of fertility in PWS men...
September 2018: Molecular Genetics & Genomic Medicine
Miriam Kessi, Jing Peng, Lifen Yang, Juan Xiong, Haolin Duan, Nan Pang, Fei Yin
BACKGROUND: Electrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epilepsy aphasia spectrum. This EEG pattern can occur alone or with other syndromes. Its etiology is not clear, however, brain malformations, immune disorders, and genetic etiologies are suspected to contribute. We aimed to perform a systematic review of all genetic etiologies which have been reported to associate with ESESS/CSWSS/epilepsy-aphasia spectrum...
July 6, 2018: BMC Genetics
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