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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...
August 14, 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...
August 14, 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...
August 14, 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...
July 12, 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
Nobuhiro Nakai, Toru Takumi, Junichi Nakai, Masaaki Sato
In vivo optical imaging is a powerful tool for revealing brain structure and function at both the circuit and cellular levels. Here, we provide a systematic review of findings obtained from in vivo imaging studies of mouse models of neurodevelopmental disorders, including the monogenic disorders fragile X syndrome, Rett syndrome, and Angelman syndrome, which are caused by genetic abnormalities of FMR1, MECP2 , and UBE3A , as well as disorders caused by copy number variations (15q11-13 duplication and 22q11...
2018: Frontiers in Neuroscience
Kiyotaka Isobe, Hiroshi Matsumoto, Yoshiteru Tamura, Junya Hashimoto, Keiko Matsubara, Shigeaki Nonoyama
OBJECTIVE: To report detail of a patient with infantile spasms whose cytogenetic analysis revealed mosaic monocentric and duplicated supernumerary marker chromosome (SMC) 15. SUBJECT AND METHODS: The subject for this case was a 13-month-old girl with infantile spasms and delayed developmental milestones. Chromosomal analysis with G-band showed the presence of SMC in mosaic. Further investigations using in situ hybridization, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), microsatellite marker, and single nucleotide polymorphism (SNP) array analysis were performed...
June 27, 2018: Brain & Development
Delanie Macedo, Monica M França, Luciana Montenegro, Marina Cunha-Silva, Danielle S Bessa, Ana Paula Abreu, Ursula B Kaiser, Berenice B Mendonca, Alexander A L Jorge, Vinicius N Brito, Ana C Latronico
<br>Context: Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). Whether MKRN3 alterations in regulatory regions can cause CPP has not been explored to date. We aimed to investigate potential pathogenic variants in the promoter region of MKRN3 in patients with idiopathic CPP. Patients/ Methods: A cohort of 110 patients with idiopathic CPP was studied. Family history of precocious sexual development was present in 25%...
May 15, 2018: Neuroendocrinology
Manijeh Mahdavi, Majid Kheirollahi, Roya Riahi, Fariborz Khorvash, Mehdi Khorrami, Maryam Mirsafaie
Previous studies have reported the association of GABA receptor subunits B3, A5, and G3 single-nucleotide polymorphisms (SNPs) in chromosome 15q11-q13 with autism spectrum disorders (ASDs). However, the currently available results are inconsistent. This study aimed to investigate the association between ASD and the GABA receptor SNPs in chromosomal region 15q11-q13. The association was calculated by the overall odds ratio (OR) with a 95% confidence interval (CI). We used sensitivity analyses and the assessment of publication bias in our meta-analysis...
May 3, 2018: Journal of Molecular Neuroscience: MN
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
July 2018: Journal of Human Genetics
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
June 2018: Pediatric Cardiology
Kathryn B Manheimer, Nihir Patel, Felix Richter, Joshua Gorham, Angela C Tai, Jason Homsy, Marko T Boskovski, Michael Parfenov, Elizabeth Goldmuntz, Wendy K Chung, Martina Brueckner, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, Bruce D Gelb, Andrew J Sharp
Multiple tools have been developed to identify copy number variants (CNVs) from whole exome (WES) and whole genome sequencing (WGS) data. Current tools such as XHMM for WES and CNVnator for WGS identify CNVs based on changes in read depth. For WGS, other methods to identify CNVs include utilizing discordant read pairs and split reads and genome-wide local assembly with tools such as Lumpy and SvABA, respectively. Here, we introduce a new method to identify deletion CNVs from WES and WGS trio data based on the clustering of Mendelian errors (MEs)...
June 2018: Human Mutation
Eugènia Moix Gil, Olga Giménez-Palop, Assumpta Caixàs
INTRODUCTION: The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients. OBJECTIVE: To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults...
April 2018: Endocrinología, Diabetes y Nutrición
John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf
BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature...
May 2018: Journal of Medical Genetics
Rajeev Krishnadas, Sally-Ann Cooper, Alice Nicol, Sally Pimlott, Sarita Soni, Anthony J Holland, Laura McArthur, Jonathan Cavanagh
Prader-Willi syndrome (PWS) is a rare condition because of the deletion of paternal chromosomal material (del PWS), or a maternal uniparental disomy (mUPD PWS), at 15q11-13. Affective psychosis is more prevalent in mUPD PWS. We investigated the relationship between the two PWS genetic variants and brain-stem serotonin transporter (5-HTT) availability in adult humans. Mean brain-stem 5-HTT availability determined by [123I]-beta-CIT single photon emission tomography was lower in eight adults with mUPD PWS compared with nine adults with del PWS (mean difference -0...
January 2018: British Journal of Psychiatry: the Journal of Mental Science
Friederike Ehrhart, Kelly J M Janssen, Susan L Coort, Chris T Evelo, Leopold M G Curfs
OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism...
March 1, 2018: World Journal of Biological Psychiatry
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