Review
Clinical Neurology
Jing Wang, Ling Xiao, Junling Wang, Zijin Ding, Jie Ni, Xiaoyan Long
Summary: Ring chromosome 18 (r[18]) is a rare syndrome characterized by loss of one or both ends of chromosome 18, resulting in ring-shaped structures. This case report describes a 12-year-old Chinese girl with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy associated with r(18) syndrome. The presence of epilepsy in r(18) patients may be linked to abnormalities in chromosome karyotypes, warranting further studies for confirmation.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Alessandro Vaisfeld, Serena Spartano, Giuseppe Gobbi, Annamaria Vezzani, Giovanni Neri
Summary: Ring 14 syndrome is a rare condition characterized by multiple congenital anomalies and developmental delays, with notable features of retinal anomalies and drug-resistant epilepsy. Discrepancies between ring and linear deletion syndrome in clinical manifestations remain unexplained with insufficient current clinical and molecular evidence.
Review
Biochemistry & Molecular Biology
Masaru Ueno
Summary: The regulation of telomere length is important for cancer risk and aging. Fission yeast is a good model for studying circular chromosomes, and the deletion of pot1 leads to rapid telomere degradation and chromosome fusion. Exploring genes that interact with pot1 helps to uncover new genes and functions related to telomere and circular chromosome maintenance.
Article
Biochemistry & Molecular Biology
Agnieszka Lukaszewicz, Julian Lange, Scott Keeney, Maria Jasin
Summary: Numerous DNA double-strand breaks arise during meiosis to initiate homologous recombination. A distinct type of mutational event involves deletions formed by joining ends from closely spaced DSBs within single or adjacent hotspots. In the absence of the ATM kinase, these deletions are more frequent and may lead to insertional mutagenesis.
Article
Clinical Neurology
Kenneth A. Myers, Mark F. Bennett, Michael S. Hildebrand, Matthew J. Coleman, Geyu Zhou, Georgie Hollingsworth, Anita Cairns, Kate Riney, Samuel F. Berkovic, Melanie Bahlo, Ingrid E. Scheffer
Summary: Ring chromosomes, specifically ring 20, are associated with intellectual disability and epilepsy. RNA-seq analysis of blood samples from patients with ring 20 identified potential differential expression of 97 genes, including NPRL3. However, the exact pathogenic mechanism remains unclear and may involve differential expression of genes not located on chromosome 20.
Article
Biochemistry & Molecular Biology
Zerin Hyder, Wim Van Paesschen, Ataf Sabir, Francis H. Sansbury, Katherine B. Burke, Naz Khan, Kate E. Chandler, Nicola S. Cooper, Ronnie Wright, Edward McHale, Hilde Van Esch, Siddharth Banka
Summary: Mutations in the ERBB4 gene can result in non-syndromic intellectual disability or epilepsy, as demonstrated by findings in individuals from multiple families with chromosome 2q34 deletions.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Endocrinology & Metabolism
Naoko Amano, Satoshi Narumi, Katsuya Aizu, Mari Miyazawa, Kohji Okamura, Hirofumi Ohashi, Noriyuki Katsumata, Tomohiro Ishii, Tomonobu Hasegawa
Summary: This study aimed to explore a new genetic form of primary adrenal insufficiency (PAI). Through analysis of nine childhood-onset patients with biochemically and genetically unknown PAI, various-sized single-exon deletions involving ZNRF3 exon 2 were identified. Further research showed that these deletions could lead to the inactivation of RSPO1-dependent Wnt/β-catenin signaling.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Oncology
Silvia Helena Barem Rabenhorst, Rafael Lima Verde Osterne, Cassiano Francisco Weege Nonaka, Andre Montezuma Sales Rodrigues, Renato Luiz Maia Nogueira, Rommel Mario Rodriguez Burbano, Roberta Barroso Cavalcante
Summary: The study identified a higher prevalence of chromosomal abnormalities in oral squamous cell carcinoma (OSCC) compared to oral epithelial dysplasia (OED), with higher frequencies of deletions in 1p36, 1q25, and 1pTEL in lesions with higher TNM staging. Deletion of 1p36, 1q25, and 1pTEL could be markers of worse prognosis in OSCC.
Review
Oncology
Ioannis Panagopoulos, Sverre Heim
Summary: Fusion genes are created by the physical joining of two different genes, often as a result of balanced chromosomal rearrangements such as translocations and inversions. Chromosome deletions, which are mostly submicroscopic and not detected by conventional cytogenetic analysis, also play a role in the formation of fusion genes. As tumors are increasingly analyzed using advanced techniques like array comparative genome hybridization (aCGH) and high throughput sequencing (HTS), more interstitial deletions giving rise to fusion genes are expected to be identified, with significant implications for cancer understanding and treatment.
CANCER GENOMICS & PROTEOMICS
(2021)
Article
Neurosciences
Tiantian Xiao, Xiang Chen, Yan Xu, Huiyao Chen, Xinran Dong, Lin Yang, Bingbing Wu, Liping Chen, Long Li, Deyi Zhuang, Dongmei Chen, Yuanfeng Zhou, Huijun Wang, Wenhao Zhou
Summary: Patients with novel KCNQ2 variants exhibit variable phenotypes, with some experiencing early neonatal seizures and others showing signs of neurodevelopmental delay. On the other hand, patients with 20q13.3 deletions tend to have normal neurological development.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Review
Genetics & Heredity
Ruizhi Deng, Melysia T. McCalman, Thomas P. Bossuyt, Tahsin Stefan Barakat
Summary: Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare and associated with intellectual disability, developmental delay, failure to thrive, and congenital anomalies. Understanding the genotype-phenotype correlations of different deletions can help identify causative genes and improve understanding of 12q deletion syndromes. Research on individuals with 12q14 deletions can further delineate genotype-phenotype correlations and identify disease relevant genes, expanding knowledge on deletions on chromosome 12q which might facilitate patient counseling and research on neurodevelopmental disorders.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Ali Bani-Fatemi, Christopher Adanty, Nasia Dai, Ariel Graff, Philip Gerretsen, Vincenzo De Luca
Summary: The study did not find a significant association between deletions on chromosome 22 and suicide attempt in patients with schizophrenia. However, CNV studies may provide important insights for further investigation and treatment of neuropsychiatric diseases.
NEUROPSYCHOBIOLOGY
(2021)
Correction
Chemistry, Multidisciplinary
Emily A. Prebihalo, Anna M. Luke, Yernaidu Reddi, Christopher J. LaSalle, Vijay M. Shah, Christopher J. Cramer, Theresa M. Reineke
Summary: Correction: This study provides important theoretical guidance for the synthesis of high-performance polymer materials with special structures by the radical ring-opening polymerization of sustainably-derived thionoisochromanone.
Article
Oncology
Ya-Lan Wei, Xiao-Jing Fan, Yu-Ying Diao, Zhen-Yu She, Xin-Rui Wang
Summary: In this study, it is revealed that KIFC1 proteins mainly accumulate at centrosomes and central spindle in mouse spermatocytes, and inhibiting KIFC1 leads to increased micronuclei in spermatocytes, disorganized meiotic spindles, and formation of multiple centrosomes.
EXPERIMENTAL CELL RESEARCH
(2022)
Review
Medicine, General & Internal
Kuntharee Traisrisilp, Yuri Yanase, Krittaya Phirom, Theera Tongsong
Summary: This study presents a unique case of fetal ring chromosome 15 and provides a review of prenatal sonographic findings of the disease. The review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection.
Article
Genetics & Heredity
Julian Nevado, Karen S. Ho, Marcella Zollino, Raquel Blanco, Cesar Cobaleda, Christelle Golzio, Isabelle Beaudry-Bellefeuille, Sarah Berrocoso, Jacobo Limeres, Pilar Barruz, Candela Serrano-Martin, Concetta Cafiero, Ignacio Malaga, Giuseppe Marangi, Elena Campos-Sanchez, Tania Moriyon-Iglesias, Sorangui Marquez, Leah Markham, Hope Twede, Amanda Lortz, Lenora Olson, Xiaoming Sheng, Cindy Weng, Edward Robert Wassman, Tara Newcomb, Edward Robert Wassman, John C. Carey, Agatino Battaglia, Eduardo Lopez-Granados, Damien Douglas, Pablo Lapunzina
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Article
Genetics & Heredity
Anna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, Elisabetta Cattaruzzi, Flora Maria Murru, Giulia Pelliccione, Daniela Mazza, Marcella Zollino, Claudio Graziano, Umberto Ambrosetti, Marco Seri, Flavio Faletra, Giorgia Girotto
Article
Genetics & Heredity
Aurora Curro, Gabriella Doddato, Mirella Bruttini, Marcella Zollino, Giuseppe Marangi, Michele Zappella, Alessandra Renieri, Anna Maria Pinto
Summary: Genetic conditions encompass diverse phenotypes, with facial features and clinical history being key elements for diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome share some characteristics, but the importance of facial features and clinical history varies in different cases.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Claudia Ciaccio, Valentina Duga, Chiara Pantaleoni, Silvia Esposito, Isabella Moroni, Michele Pinelli, Raffaele Castello, Vincenzo Nigro, Luisa Chiapparini, Stefano D'Arrigo
Summary: TELO2-related syndrome is a rare disorder characterized by global developmental delay and various symptoms. We presented a case where two sisters with the syndrome showed a milder phenotype possibly due to a specific gene variant.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Serena Lattante, Paolo Niccolo Doronzio, Amelia Conte, Giuseppe Marangi, Francesco Martello, Giulia Bisogni, Emiliana Meleo, Davide Colavito, Elda Del Giudice, Agata Katia Patanella, Daniela Bernardo, Angela Romano, Marcella Zollino, Mario Sabatelli
Summary: NEK1 gene has been identified as a new gene related to ALS, with mostly loss-of-function variants. A study in an Italian cohort of ALS patients found 20 rare NEK1 variants, including novel frameshift variants and a start codon variant. Investigation of NEK1 expression in fibroblasts from patients with variants showed decreased expression, suggesting a potential pathogenic role for missense variants. The presence of additional variants in ALS-related genes in some patients with NEK1 variants supports an oligogenic ALS model.
HUMAN MOLECULAR GENETICS
(2021)
Review
Genetics & Heredity
Roberta Onesimo, Paolo Versacci, Angelica Bibiana Delogu, Gabriella De Rosa, Flaminia Pugnaloni, Rita Blandino, Chiara Leoni, Giulio Calcagni, Maria C. Digilio, Marcella Zollino, Bruno Marino, Giuseppe Zampino
Summary: Smith-Magenis syndrome (SMS) is a genetic disorder characterized by various congenital anomalies and cardiac defects. A study was conducted to describe the cardiac function in a large cohort of pediatric patients with SMS and to analyze the correlation between genotype and cardiac phenotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Cell & Tissue Engineering
Francesco Martello, Serena Lattante, Paolo Niccolo Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Filomena Pirozzi, Mario Sabatelli, Marcella Zollino, Giuseppe Marangi
Summary: Researchers successfully obtained iPSCs from an ALS patient, which will help to further investigate the pathogenic mechanisms of ALS.
STEM CELL RESEARCH
(2021)
Article
Clinical Neurology
Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon D. Topp, J. Raphael Gibbs, Mark R. Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson-Stone, John B. Kwok, Emily S. Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen E. Morrison, Pamela J. Shaw, Ammar Al-Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna Scott, Christopher E. Shaw, A. Nazli Basak, John E. Landers, Adriano Chio, Thomas O. Crawford, Bradley N. Smith, Bryan J. Traynor
Summary: This study identified variants in the SPTLC1 gene associated with juvenile ALS, suggesting that screening for these variants may be important for patients presenting with juvenile ALS.
Article
Genetics & Heredity
Elodie M. Richard, Somayeh Bakhtiari, Ashley P. L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, ManuelaMorleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp, Claudia Steen, Iris Marquardt, Mona Grimmel, Ute Grasshoff, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Francesca Clementinac Radio, Cecilia Mancini, Dianela Judith Claps Sepulveda, Kirsty Mc Walter, Amber Begtrup, Amy Crunk, Maria J. Guillen Sacoto, Richard Person, Rhonda E. Schnur, Maria Margherita Mancardi, Florian Kreuder, Pasquale Striano, Federico Zara, Wendy K. Chung, Warren A. Marks, Clare L. van Eyk, Dani L. Webber, Mark A. Corbett, Kelly Harper, Jesia G. Berry, Alastair H. Mac Lennan, Jozef Gecz, Marco Tartaglia, Vincenzo Salpietro, John Christodoulou, Jan Kaslin, Sergio Padilla-Lopez, Kaya Bilguvar, Alexander Munchau, Zubair M. Ahmed, Robert B. Hufnagel, Michael C. Fahey, Reza Maroofian, Henry Houlden, Heinrich Sticht, Shrikant M. Mane, Aboulfaz LRad, Barbara Vona, Sheng Chih Jin, Tobias B. Haack, Christine Makowski, Yoel Hirsch, Saima Riazuddin, Michael C. Kruer
Summary: Bi-allelic variants in the SPATA5L1 gene are associated with sensorineural hearing loss, as well as microcephaly, developmental delay, cerebral palsy, and epilepsy. The variants are predicted to have damaging effects on the protein structure, leading to abnormalities in the brain and inner ear. Transcriptomic analysis suggests a role for SPATA5L1 in cell adhesion receptor function, focal adhesions, and DNA replication and mitosis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M. Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino
Summary: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by a gene mutation, and can sometimes coexist with other genetic disorders such as Duchenne muscular dystrophy (DMD), PPP2R5D--related neurodevelopmental disorder, and 2p25.3 deletion. These rare cases demonstrate the complex relationship between FXS and other genetic conditions, with the potential for modifying clinical features in patients.
Article
Chemistry, Multidisciplinary
Elena D'Amato, Constantino Carlos Reyes-Aldasoro, Arianna Consiglio, Gabriele D'Amato, Maria Felicia Faienza, Marcella Zollino
Summary: This work presents a non-invasive, automated software framework that discriminates individuals with Pitt-Hopkins syndrome (PTHS) from healthy ones through analyzing morphological facial features. The software achieved an accuracy rate of 91% in classifying individuals with PTHS, compared to 74% recognition rate by pediatricians. Two geometric features related to the nose and mouth showed significant statistical differences between the two populations.
APPLIED SCIENCES-BASEL
(2021)
Article
Medicine, General & Internal
Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Marco Tartaglia, Andrea Bartuli, Corrado Mammi, Stefano Vicari, Manuela Priolo
Summary: The study aims to define the cognitive and adaptive behavior profile of children and adolescents with Malan Syndrome (MS) and provides quantitative data from standardized evaluations. The results showed that all individuals assessed exhibited low cognitive and adaptive functioning, with mild to severe intellectual disability and impaired language skills.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Clinical Neurology
Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco
Summary: AADC deficiency is a rare metabolic disorder caused by genetic variants in the DDC gene. This systematic review examined the phenotypic spectrum of the disorder and found that most patients showed symptoms within the first 6 months of life, with hypotonia and developmental delay being the main signs. Oculogyric crises, hypokinesia, and ptosis were also commonly reported symptoms.
BEHAVIOURAL NEUROLOGY
(2022)
Article
Medicine, General & Internal
Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, Andrea Busnelli, Nicoletta Di Simone, Eleonora Pulcinelli, Giorgia Schettini, Giovanni Scambia, Marcella Zollino
Summary: The aim of the study was to evaluate whether cell-free DNA testing can overlap the genetic testing of miscarriage tissue in women with early pregnancy loss (EPL) and recurrent pregnancy loss (RPL). The results showed that cfDNA analysis is a useful tool for the chromosome diagnosis of both early and recurrent pregnancy loss, although it has limitations in diagnostic sensitivity compared to the chromosomal microarray analysis.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Education, Special
P. A. Mulder, I. D. C. van Balkom, A. M. Landlust, M. Priolo, L. A. Menke, I. H. Acero, F. S. Alkuraya, P. Arias, L. Bernardini, E. K. Bijlsma, T. Cole, C. Coubes, I. Dapia, S. Davies, N. Di Donato, N. H. Elcioglu, J. A. Fahrner, A. Foster, N. G. Gonzalez, I. Huber, M. Iascone, A. -S. Kaiser, A. Kamath, K. Kooblall, P. Lapunzina, J. Liebelt, S. A. Lynch, S. M. Maas, C. Mammi, I. B. Mathijssen, S. McKee, G. M. Mirzaa, T. Montgomery, D. Neubauer, T. E. Neumann, L. Pintomalli, M. A. Pisanti, A. S. Plomp, S. Price, C. Salter, F. Santos-Simarro, P. Sarda, D. Schanze, M. Segovia, C. Shaw-Smith, S. Smithson, M. Suri, K. Tatton-Brown, J. Tenorio, R. V. Thakker, R. M. Valdez, A. Van Haeringen, J. M. Van Hagen, M. Zenker, M. Zollino, W. W. Dunn, S. Piening, R. C. Hennekam
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2020)