Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Fernanda Martin Merlez, María González Zalazar, Silvia Castillo Taucher
Coffin-Siris syndrome (CSS) is one of the several causes of intellectual disability (ID) and, since its first description, has posed diagnostic challenges given its variability and phenotypic overlap with other alterations of chromatin-remodeling-associated syndromes. It is genetically heterogeneous, and causative mutations are detected in less than 70% of cases. The different subtypes of the syndrome described to date are caused by mutations in genes that encode subunits of the SWI/SNF chromatin-remodeling complex, which plays an essential role in the regulation of gene expression during embryogenesis...
June 2024: Journal of Pediatric Genetics
#2
Konstantinos Kolokotronis, Aude-Annick Suter, Ivan Ivanovski, Tanja Frey, Angela Bahr, Anita Rauch, Katharina Steindl
To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2. Here we report on the first familial case of Coffin-Siris syndrome type 7. The index patient presented at the age of 1 year with failure to thrive and ectodermal anomalies. The genetic analysis using whole exome sequencing showed a likely pathogenic missense variant in the PHD1 region...
April 30, 2024: European Journal of Medical Genetics
#3
JOURNAL ARTICLE
Mengqi Zhou, Feng Wang, Qinggang Dai, Jiaqi Dou, Yiqun Wu, Yaqin Zhu
OBJECTIVES: Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. Tooth agenesis has been reported in CSS patients, but the mechanisms regulating this syndromic tooth agenesis remain largely unknown. This study aims to identify the pathogenic mutation of CSS presenting tooth genesis and explore potential regulatory mechanisms. MATERIALS AND METHODS: We utilized whole-exome sequencing to identify variants in a CSS patient, followed by Sanger validation...
April 30, 2024: Clinical Oral Investigations
#4
Ruohao Wu, Wenting Tang, Pinggan Li, Zhe Meng, Xiaojuan Li, Liyang Liang
De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations...
April 9, 2024: American Journal of Medical Genetics. Part A
#5
JOURNAL ARTICLE
Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour
INTRODUCTION: Coffin-Siris Syndrome (CSS) is a rare genetic disorder of unknown etiology. It combines digital-ungual abnormalities, facial dysmorphism, developmental and intellectual delay, and other organ-system abnormalities. Oral and dental anomalies are rarer. CASE REPORT: 8-year-old boy with clinical diagnosis of CSS presented facial dysmorphism, sparse hair, a flat and wide nose, absence of nails on 3rd and 5th fingers of the right hand and 3rd and 4th fingers of the left hand, malformation of the feet, toes with nail hypoplasia...
April 5, 2023: La Tunisie Médicale
#6
JOURNAL ARTICLE
Fanny Mermet-Meillon, Samuele Mercan, Beatrice Bauer-Probst, Cyril Allard, Melusine Bleu, Keith Calkins, Judith Knehr, Marc Altorfer, Ulrike Naumann, Kathleen Sprouffske, Louise Barys, Fabian Sesterhenn, Giorgio G Galli
ARID1B is a SWI/SNF subunit frequently mutated in human Coffin-Siris syndrome (CSS) and it is necessary for proliferation of ARID1A mutant cancers. While most CSS ARID1B aberrations introduce frameshifts or stop codons, the functional consequence of missense mutations found in ARID1B is unclear. We here perform saturated mutagenesis screens on ARID1B and demonstrate that protein destabilization is the main mechanism associated with pathogenic missense mutations in patients with Coffin-Siris Syndrome.
February 12, 2024: Nature Structural & Molecular Biology
#7
Ann-Christin Jahnke-Majorkovits, Christine Fauth, Manuela Gander, Kathrin Sevecke
Coffin-Siris syndrome (CSS) is a rare genetic disorder and often co-occurs with attention-deficit hyperactivity disorder (ADHD) and autism spectrum (ASD). The present case study illustrates possible therapeutic interventions of these common psychiatric comorbidities taking into account the family interaction patterns. This can contribute to improve holistic management and overall level of functionality.
February 2024: Clinical Case Reports
#8
JOURNAL ARTICLE
Samantha A Schrier Vergano
Coffin-Siris Syndrome (CSS, MIM 135900) is now a well-described genetic condition caused by pathogenic variants in the Bromocriptine activating factor (BAF) complex, including ARID1B, ARID1A, ARID2, SMARCA4, SMARCE1, SMARCB1, SOX11, SMARCC2, DPF2, and more recently, BICRA. Individuals with CSS have a spectrum of various medical challenges, most often evident at birth, including feeding difficulties, hypotonia, organ-system anomalies, and learning and developmental differences. The classic finding of fifth digit hypo- or aplasia is seen variably...
January 19, 2024: American Journal of Medical Genetics. Part A
#9
JOURNAL ARTICLE
Donghyun Shin, Yoo Jung Lee, Yoon Hee Jo, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Seung Hwan Oh, Young Mi Kim
Coffin-Siris syndrome (CSS) is a rare congenital disorder characterized by coarse facial features, intellectual disability or developmental delay, and aplasia or hypoplasia of the tips of the fifth finger and/or toes. Mutations in genes affecting the switch/sucrose non-fermenting ATP-dependent chromatin remodeling complex are reported to cause CSS. Here, we describe three CSS patients. Two girls aged 3 and 2 years old presented with global developmental delay, poor growth, and a dysmorphic face. Whole-exome sequencing (WES) was performed and they were diagnosed with CSS due to heterozygous frameshift variants (c...
November 2023: Annals of Clinical and Laboratory Science
#10
JOURNAL ARTICLE
Zhi Li, Fang Liu, Ruihua Wan, Yuanyuan Wu, Jun Liu
OBJECTIVE: To explore the genetic basis of two children with unexplained psychomotor developmental delay and facial dysmorphisms suggestive of Coffin-Siris syndrome (CSS). METHODS: A boy and a girl suspected for CSS at the 980th Hospital of the People's Liberation Army Joint Service Support Force respectively in July 2019 and January 2021, and seven members from their families, were selected as the study subjects. Clinical data and family history of the children were collected, and detailed physical examination was carried out, in addition with laboratory and related auxiliary examinations...
January 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#11
JOURNAL ARTICLE
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Roseline Caumes, Perrine Charles, Nicolas Chatron, Krystyna Chrzanowska, Marta Codina-Solà, Cindy Colson, Ivon Cuscó, Anne-Sophie Denommé-Pichon, Patrick Edery, Laurence Faivre, Andrew Green, Solveig Heide, Tzung-Chien Hsieh, Alexander Hustinx, Lotte Kleinendorst, Cordula Knopp, Florian Kraft, Peter M Krawitz, Amaia Lasa-Aranzasti, Gaetan Lesca, Vanesa López-González, Julien Maraval, Cyril Mignot, Teresa Neuhann, Christian Netzer, Barbara Oehl-Jaschkowitz, Florence Petit, Christophe Philippe, Renata Posmyk, Audrey Putoux, André Reis, María José Sánchez-Soler, Julia Suh, Tinatin Tkemaladze, Frédéric Tran Mau Them, André Travessa, Laura Trujillano, Irene Valenzuela, Mieke M van Haelst, Georgia Vasileiou, Catherine Vincent-Delorme, Mona Walther, Pablo Verde, Nuria C Bramswig, Dagmar Wieczorek
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks. In an international collaborative effort, data from 35 individuals ≥ 18 years with a molecularly ascertained CSS diagnosis (variants in ARID1B, ARID2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, BICRA) using a comprehensive questionnaire was collected...
January 2024: Human Genetics
#12
JOURNAL ARTICLE
Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K Haanpää
Coffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including SMARCB1 and ARID1A . Pathogenic SMARCB1 gene variants cause Coffin-Siris syndrome 3 whereas pathogenic ARID1A gene variants cause Coffin-Siris syndrome 2...
November 19, 2023: Pediatric and Developmental Pathology
#13
Luka Milutinovic, Roberto Grujicic, Vanja Mandic Maravic, Ivana Joksic, Natasa Ljubomirovic, Milica Pejovic Milovancevic
INTRODUCTION: Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair...
2023: Frontiers in Psychiatry
#14
Kulawan Rojananuangnit, Kitiwan Rojnueangnit
BACKGROUND: Bilateral secondary angle closure glaucoma is a presenting symptom of microspherophakia and ectopia lentis. Characterizing the associated syndrome and confirmation by genetic testing can identify associated systemic abnormalities and provide appropriate genetic counseling. CASE PRESENTATION: A 42-year-old woman with severe intellectual disability presented with light perception visual acuity and glaucoma, with intraocular pressure (IOP) in her right and left eyes of 69 and 70 mmHg, respectively...
2023: Application of Clinical Genetics
#15
Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith-Rae Dias, Krystle Standen, Carey-Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung-Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding-Byth, Bekim Sadikovic, Jason Pinner, Michael F Buckley, Tony Roscioli
Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to ARID1B loss of function variants. We report a boy with developmental delay, feeding difficulties, aspiration, recurrent respiratory infections, slow growth, and hypotonia without a clinical diagnosis, where a previously unreported ARID1B missense variant was classified as a variant of uncertain significance...
September 2023: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
#16
JOURNAL ARTICLE
Eyyup Uctepe, Bekir Erguner, Fatma Mujgan Sonmez
No abstract text is available yet for this article.
August 10, 2023: Clinical Dysmorphology
#17
JOURNAL ARTICLE
Domizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, Arianna Panfili, Pietro Chiurazzi, Elena Sonnini, Daniela Orteschi, Paolo Alfieri, Manuela Morleo, Vincenzo Nigro, Marcella Zollino
Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 -year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin-Siris syndrome (CSS), characterised by growth restriction, moderate ID, coarse face, hypertrichosis and hypoplastic nails...
August 9, 2023: Clinical Genetics
#18
JOURNAL ARTICLE
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscó, Julian A Martinez-Agosto, Ahna M Rabani, Heather C Mefford, Elaine M Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J Prijoles, Amy Dobson, Amelle Shillington, Brett H Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G Ropers, Esther Ar Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs W E Santen, Markus Zweier, Philippe M Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou
PURPOSE: Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. METHODS: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlation, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants...
August 4, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#19
JOURNAL ARTICLE
Pei-Pei Liu, Shi-Ping Lu, Xiao Li, Gang-Bin Tang, Xiao Liu, Shang-Kun Dai, Lin-Fei Jiao, Xi-Wen Lin, Xing-Guo Li, Baoyang Hu, Jianwei Jiao, Zhao-Qian Teng, Chun-Sheng Han, Chang-Mei Liu
ARID1A, an SWI/SNF chromatin-remodeling gene, is commonly mutated in cancer and hypothesized to be a tumor suppressor. Recently, loss-of-function of ARID1A gene has been shown to cause intellectual disability. Here we generate Arid1a conditional knockout mice and investigate Arid1a function in the hippocampus. Disruption of Arid1a in mouse forebrain significantly decreases neural stem/progenitor cells (NSPCs) proliferation and differentiation to neurons within the dentate gyrus (DG), increasing perinatal and postnatal apoptosis, leading to reduced hippocampus size...
August 5, 2023: Cell Death and Differentiation
#20
JOURNAL ARTICLE
Xiang-Yi Jing, Li Zhen, Xiao-Mei Lin, Dong-Zhi Li
No abstract text is available yet for this article.
August 4, 2023: Congenital Anomalies
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
