keyword
MENU ▼
Read by QxMD icon Read
search

Coffin-siris

keyword
https://www.readbyqxmd.com/read/27867341/disorders-of-transcriptional-regulation-an-emerging-category-of-multiple-malformation-syndromes
#1
REVIEW
Kosuke Izumi
Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27672547/coffin-siris-syndrome-with-caf%C3%A3-au-lait-spots-obesity-and-hyperinsulinism-caused-by-a-mutation-in-the-arid1b-gene
#2
Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz
Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, café-au-lait (CAL) spots, obesity and hyperinsulinism...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27616479/de-novo-mutations-in-chd4-an-atp-dependent-chromatin-remodeler-gene-cause-an-intellectual-disability-syndrome-with-distinctive-dysmorphisms
#3
Karin Weiss, Paulien A Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F Martinez, Jill A Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez-Ospina, Katrina Haude, Chin-To Fong, Gregory M Enns, Jonathan A Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen van Gassen, Glen R Monroe, Gijs van Haaften, Lina Basel-Vanagaite, Xiang-Jiao Yang, Philippe M Campeau, Maximilian Muenke
Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle progression. Also known as Mi2β, CHD4 is an integral subunit of a well-characterized histone deacetylase complex. Here we report five individuals with de novo missense substitutions in CHD4 identified through whole-exome sequencing and web-based gene matching. These individuals have overlapping phenotypes including developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27570168/a-novel-familial-autosomal-dominant-mutation-in-arid1b-causing-neurodevelopmental-delays-short-stature-and-dysmorphic-features
#4
Joshua A Smith, Kenton R Holden, Michael J Friez, Julie R Jones, Michael J Lyons
Recent studies have identified mutations in the ARID1B gene responsible for neurodevelopmental delays, intellectual disability, growth delay, and dysmorphic features. ARID1B encodes a subunit of the BAF chromatin-remodeling complex, and mutations in multiple components of the BAF complex have been implicated as causes of Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, and non-syndromic intellectual disability. The majority of documented pathogenic ARID1B mutations to date have arisen in a sporadic, de novo manner with no reports of inheritance of a pathogenic mutation from an affected parent...
August 29, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27511161/hirschsprung-disease-as-a-yet-undescribed-phenotype-in-a-patient-with-arid1b-mutation
#5
Toshiki Takenouchi, Hiroshi Yoshihashi, Yuri Sakaguchi, Tomoko Uehara, Masataka Honda, Takao Takahashi, Kenjiro Kosaki, Sahoko Miyama
Mutations in the BAF complex (mammalian SWI/SNF complex) are responsible for Coffin-Siris syndrome, which is characterized by developmental delay, distinctive facial features, hirsutism, and hypoplasia/aplasia of the fifth finger/fingernails. Hirschsprung disease is characterized by defective stem cells in the enteric neural system, and the involvement of multiple signaling cascades has been implicated. So far, the roles of the BAF complex in the genesis of Hirschsprung disease have remained unknown. Here, we document a patient with coarse facial features, postnatal growth failure, developmental delay, epilepsy, and hypoplasia of the corpus callosum and cerebellum but without a hypoplastic fifth finger/fingernail...
August 11, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27342409/male-fertility-and-skin-diseases
#6
M Badawy Abdel-Naser, Christos C Zouboulis
Male fertility can be affected by a variety of organs diseases, including the skin. Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidism and hypogonadism. The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macrostomia, Coffin-Siris, Gorlin-Goltz, and Werner...
June 25, 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27264538/clinical-features-of-smarca2-duplication-overlap-with-coffin-siris-syndrome
#7
Noriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, Maha M Eid, Hitoshi Osaka, Nobuhiko Okamoto, Amal M Mohamed, Takahiro Ikeda, Hanan H Afifi, Juliette Piard, Lionel van Maldergem, Takeshi Mizuguchi, Satoko Miyatake, Yoshinori Tsurusaki, Naomichi Matsumoto
Coffin-Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3-p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat. Both patients share a duplicated 15.8-Mb region containing 46 protein coding genes, including SMARCA2...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27264197/smarce1-a-rare-cause-of-coffin-siris-syndrome-clinical-description-of-three-additional-cases
#8
Yuri A Zarate, Elizabeth Bhoj, Julie Kaylor, Dong Li, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Shubha Phadke, Luis Escobar, Afifa Irani, Hakon Hakonarson, Samantha A Schrier Vergano
Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562)...
August 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27165002/the-sub-nucleolar-localization-of-phf6-defines-its-role-in-rdna-transcription-and-early-processing-events
#9
Matthew A M Todd, Michael S Huh, David J Picketts
Ribosomal RNA synthesis occurs in the nucleolus and is a tightly regulated process that is targeted in some developmental diseases and hyperactivated in multiple cancers. Subcellular localization and immunoprecipitation coupled mass spectrometry demonstrated that a proportion of plant homeodomain (PHD) finger protein 6 (PHF6) protein is localized within the nucleolus and interacts with proteins involved in ribosomal processing. PHF6 sequence variants cause Börjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900) and are also associated with a female-specific phenotype overlapping with Coffin-Siris syndrome (MIM#135900), T-cell acute lymphoblastic leukemia (MIM#613065), and acute myeloid leukemia (MIM#601626); however, very little is known about its cellular function, including its nucleolar role...
October 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27149204/the-developmental-and-pathogenic-roles-of-baf57-a-special-subunit-of-the-baf-chromatin-remodeling-complex
#10
REVIEW
Hilda Lomelí, Jorge Castillo-Robles
Mammalian SWI/SNF or BAF chromatin-remodeling complexes are polymorphic assemblies of homologous subunit families that remodel nucleosomes. BAF57 is a subunit of the BAF complexes; it is encoded only in higher eukaryotes and is present in all mammalian assemblies. Its main structural feature is a high-mobility group domain, the DNA-binding properties of which suggest that BAF57 may play topological roles as the BAF complex enters or exits the nucleosome. BAF57 displays specific interactions with a number of proteins outside the BAF complex...
June 2016: FEBS Letters
https://www.readbyqxmd.com/read/27112773/the-role-of-objective-facial-analysis-using-fdna-in-making-diagnoses-following-whole-exome-analysis-report-of-two-patients-with-mutations-in-the-baf-complex-genes
#11
Karen W Gripp, Laura Baker, Aida Telegrafi, Kristin G Monaghan
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis. There is significant clinical overlap of biologically related syndromes, as exemplified by Nicolaides-Baraitser (NCBRS) and Coffin-Siris (CSS) syndrome. Both result from mutations affecting the BAF (mSWI/SNF) complex and belong to the growing category of BAFopathies. In addition to the notable clinical overlap between these BAFopathies, heterogeneity exists for patients clinically diagnosed with one of these conditions...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26937011/essential-roles-for-arid1b-in-dendritic-arborization-and-spine-morphology-of-developing-pyramidal-neurons
#12
Minhan Ka, Divyan A Chopra, Shashank M Dravid, Woo-Yang Kim
UNLABELLED: De novo truncating mutations in ARID1B, a chromatin-remodeling gene, cause Coffin-Siris syndrome, a developmental disorder characterized by intellectual disability and speech impairment; however, how the genetic elimination leads to cognitive dysfunction remains unknown. Thus, we investigated the neural functions of ARID1B during brain development. Here, we show that ARID1B regulates dendritic differentiation in the developing mouse brain. We knocked down ARID1B expression in mouse pyramidal neurons using in utero gene delivery methodologies...
March 2, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/26830765/soxc-genes-and-the-control-of-skeletogenesis
#13
Véronique Lefebvre, Pallavi Bhattaram
The SOXC group of transcription factors, composed of SOX4, SOX11, and SOX12, has evolved to fulfill key functions in cell fate determination. Expressed in many types of progenitor/stem cells, including skeletal progenitors, SOXC proteins potentiate pathways critical for cell survival and differentiation. As skeletogenesis unfolds, SOXC proteins ensure cartilage primordia delineation by amplifying canonical WNT signaling and antagonizing the chondrogenic action of SOX9 in perichondrium and presumptive articular joint cells...
February 2016: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/26806701/the-swi-snf-baf-a-complex-is-essential-for-neural-crest-development
#14
Ronald L Chandler, Terry Magnuson
Growing evidence indicates that chromatin remodeler mutations underlie the pathogenesis of human neurocristopathies or disorders that affect neural crest cells (NCCs). However, causal relationships among chromatin remodeler subunit mutations and NCC defects remain poorly understood. Here we show that homozygous loss of ARID1A-containing, SWI/SNF chromatin remodeling complexes (BAF-A) in NCCs results in embryonic lethality in mice, with mutant embryos succumbing to heart defects. Strikingly, monoallelic loss of ARID1A in NCCs led to craniofacial defects in adult mice, including shortened snouts and low set ears, and these defects were more pronounced following homozygous loss of ARID1A, with the ventral cranial bones being greatly reduced in size...
March 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/26543203/deletions-and-de-novo-mutations-of-sox11-are-associated-with-a-neurodevelopmental-disorder-with-features-of-coffin-siris-syndrome
#15
Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, Susanne J Kühl, Usha Kini, Alisdair McNeill
BACKGROUND: SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. METHODS: We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11...
March 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26395437/gonadal-mosaicism-in-arid1b-gene-causes-intellectual-disability-and-dysmorphic-features-in-three-siblings
#16
Salma Ben-Salem, Nara Sobreira, Nadia A Akawi, Aisha M Al-Shamsi, Anne John, Thachillath Pramathan, David Valle, Bassam R Ali, Lihadh Al-Gazali
The gene encoding the AT-rich interaction domain-containing protein 1B (ARID1B) has recently been shown to be one of the most frequently mutated genes in patients with intellectual disability (ID). The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe non-specific ID to Coffin-Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati family affected with ID and dysmorphic features. Genomic DNA from all affected siblings was analyzed using CGH array and whole-exome sequencing (WES)...
January 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26376624/de-novo-mutations-in-arid1b-associated-with-both-syndromic-and-non-syndromic-short-stature
#17
Yongguo Yu, RuEn Yao, Lili Wang, Yanjie Fan, Xiaodong Huang, Joel Hirschhorn, Andrew Dauber, Yiping Shen
BACKGROUND: Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. RESULTS: Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature...
September 16, 2015: BMC Genomics
https://www.readbyqxmd.com/read/26364901/report-of-a-patient-with-a-constitutional-missense-mutation-in-smarcb1-coffin-siris-phenotype-and-schwannomatosis
#18
Nathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, Susan A Berry, Christopher L Moertel
We report a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression...
December 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26138476/evf2-lncrna-brg1-dlx1-interactions-reveal-rna-dependent-inhibition-of-chromatin-remodeling
#19
Ivelisse Cajigas, David E Leib, Jesse Cochrane, Hao Luo, Kelsey R Swyter, Sean Chen, Brian S Clark, James Thompson, John R Yates, Robert E Kingston, Jhumku D Kohtz
Transcription-regulating long non-coding RNAs (lncRNAs) have the potential to control the site-specific expression of thousands of target genes. Previously, we showed that Evf2, the first described ultraconserved lncRNA, increases the association of transcriptional activators (DLX homeodomain proteins) with key DNA enhancers but represses gene expression. In this report, mass spectrometry shows that the Evf2-DLX1 ribonucleoprotein (RNP) contains the SWI/SNF-related chromatin remodelers Brahma-related gene 1 (BRG1, SMARCA4) and Brahma-associated factor (BAF170, SMARCC2) in the developing mouse forebrain...
August 1, 2015: Development
https://www.readbyqxmd.com/read/25954173/role-of-nucleosome-remodeling-in-neurodevelopmental-and-intellectual-disability-disorders
#20
REVIEW
Alberto J López, Marcelo A Wood
It is becoming increasingly important to understand how epigenetic mechanisms control gene expression during neurodevelopment. Two epigenetic mechanisms that have received considerable attention are DNA methylation and histone acetylation. Human exome sequencing and genome-wide association studies have linked several neurobiological disorders to genes whose products actively regulate DNA methylation and histone acetylation. More recently, a third major epigenetic mechanism, nucleosome remodeling, has been implicated in human developmental and intellectual disability (ID) disorders...
2015: Frontiers in Behavioral Neuroscience
keyword
keyword
78329
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"