Journal ArticleDOI
Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx
Grange S. Coffin,Evelyn Siris +1 more
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Three small and severely retarded girls lack the nail and terminal phalanx of the little finger, and the nails and distal phalanges of the lateral toes are hypoplastic or missing.Abstract:
Three small and severely retarded girls lack the nail and terminal phalanx of the little finger. The nails and distal phalanges of the lateral toes are hypoplastic or missing. Many other anomalies are present. There are no other affected persons in the families, and the cause of the syndrome has not been found.read more
Citations
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Journal ArticleDOI
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Yoshinori Tsurusaki,Nobuhiko Okamoto,Hirofumi Ohashi,Tomoki Kosho,Yoko Imai,Yumiko Hibi-Ko,Tadashi Kaname,Kenji Naritomi,Hiroshi Kawame,Hiroshi Kawame,Keiko Wakui,Yoshimitsu Fukushima,Tomomi Homma,Mitsuhiro Kato,Yoko Hiraki,Takanori Yamagata,Shoji Yano,Seiji Mizuno,Satoru Sakazume,Takuma Ishii,Toshiro Nagai,Masaaki Shiina,Kazuhiro Ogata,Tohru Ohta,Norio Niikawa,Satoko Miyatake,Ippei Okada,Takeshi Mizuguchi,Hiroshi Doi,Hirotomo Saitsu,Noriko Miyake,Naomichi Matsumoto +31 more
TL;DR: By exome sequencing, de novo SMARCB1 mutations are found in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome.
Journal ArticleDOI
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Gijs W. E. Santen,Emmelien Aten,Yu Sun,Rowida Almomani,Christian Gilissen,Maartje Nielsen,Sarina G. Kant,Irina N. Snoeck,Els A. J. Peeters,Yvonne Hilhorst-Hofstee,Marja W. Wessels,Nicolette S. den Hollander,Claudia A. L. Ruivenkamp,Gert-Jan B. van Ommen,Martijn H. Breuning,Johan T. den Dunnen,Arie van Haeringen,Arie van Haeringen,Marjolein Kriek +18 more
TL;DR: Results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.
Journal ArticleDOI
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek,Nina Bögershausen,Filippo Beleggia,Sabine Steiner-Haldenstätt,Esther Pohl,Yun Li,Esther Milz,Marcel Martin,Holger Thiele,Janine Altmüller,Yasemin Alanay,Yasemin Alanay,Hülya Kayserili,Ludger Klein-Hitpass,Stefan Böhringer,Andreas Wollstein,Beate Albrecht,Koray Boduroğlu,Almuth Caliebe,Krystyna H. Chrzanowska,Ozgur Cogulu,Francesca Cristofoli,Johanna Christina Czeschik,Koenraad Devriendt,Maria Teresa Dotti,Nursel Elcioglu,Blanca Gener,Timm O. Goecke,Małgorzata Krajewska-Walasek,Encarnación Guillén-Navarro,Joussef Hayek,Gunnar Houge,Esra Kılıç,Pelin Ozlem Simsek-Kiper,Vanesa López-González,Alma Kuechler,Stanislas Lyonnet,Francesca Mari,Annabella Marozza,Michèle Mathieu Dramard,Barbara Mikat,Gilles Morin,Fanny Morice-Picard,Ferda Ozkinay,Anita Rauch,Alessandra Renieri,Sigrid Tinschert,G. Eda Utine,Catheline Vilain,R. Vivarelli,Christiane Zweier,Peter Nürnberg,Sven Rahmann,Joris Vermeesch,Hermann-Josef Lüdecke,Michael Zeschnigk,Bernd Wollnik +56 more
TL;DR: It is shown that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations, and proposed genotype-phenotype correlations are important for molecular screening strategies.
Journal ArticleDOI
Cornelia de Lange syndrome.
TL;DR: A brief review of the clinical features of CdLS, the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling are summarized.
Journal ArticleDOI
The BAF complex in development and disease
TL;DR: Gaining a more elaborate insight into how BAF complex assembly influences its function and which role distinct subunits play will hopefully give rise to a better understanding of disease pathogenesis and ultimately to new treatments for many human diseases.
References
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Book
Treasury of human inheritance
William Bulloch,Paul Fildes,N. Bishop. Harman,W. Jobson. Horne,Thomas. Lewis,H. Rischbieth,W. C. Rivers,A. R. Urquhart,Amy Barrington,Julia Bell,Karl Pearson,Edward Nettleship,J.B. Lawford,Francis Galton +13 more
Journal Article
De Lange syndrome: report of 20 cases
R. G. McArthur,J. H. Edwards +1 more
TL;DR: The historical, physical, laboratory and radiographic findings of de Lange's three patients and 20 patients from infancy to puberty are tabulated, and chromosome abnormalities in all 20 patients were normal and the genetic implications are discussed.
Journal ArticleDOI
Clinical Definition of the Hurler-Hunter Phenotypes: A Review of 50 Patients
Jules G. Leroy,Allen C. Crocker +1 more
TL;DR: The biochemical classification of the various subdivisions of the Hurler-Hunter syndrome is still imperfect, and prognostication and genetic counselling must rest at present on accurate classified of the pediatric patient on clinical grounds.
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Yoshinori Tsurusaki,Nobuhiko Okamoto,Hirofumi Ohashi,Tomoki Kosho,Yoko Imai,Yumiko Hibi-Ko,Tadashi Kaname,Kenji Naritomi,Hiroshi Kawame,Hiroshi Kawame,Keiko Wakui,Yoshimitsu Fukushima,Tomomi Homma,Mitsuhiro Kato,Yoko Hiraki,Takanori Yamagata,Shoji Yano,Seiji Mizuno,Satoru Sakazume,Takuma Ishii,Toshiro Nagai,Masaaki Shiina,Kazuhiro Ogata,Tohru Ohta,Norio Niikawa,Satoko Miyatake,Ippei Okada,Takeshi Mizuguchi,Hiroshi Doi,Hirotomo Saitsu,Noriko Miyake,Naomichi Matsumoto +31 more
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Gijs W. E. Santen,Emmelien Aten,Yu Sun,Rowida Almomani,Christian Gilissen,Maartje Nielsen,Sarina G. Kant,Irina N. Snoeck,Els A. J. Peeters,Yvonne Hilhorst-Hofstee,Marja W. Wessels,Nicolette S. den Hollander,Claudia A. L. Ruivenkamp,Gert-Jan B. van Ommen,Martijn H. Breuning,Johan T. den Dunnen,Arie van Haeringen,Arie van Haeringen,Marjolein Kriek +18 more
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