Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature. Issue 6 (1st May 2013)

• Record Type: Journal Article
• Authors: Kosho, Tomoki; Okamoto, Nobuhiko; Ohashi, Hirofumi; Tsurusaki, Yoshinori; Imai, Yoko; Hibi‐Ko, Yumiko; Kawame, Hiroshi; Homma, Tomomi; Tanabe, Saori; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Ohta, Tohru; Niikawa, Norio; Mizuno, Seiji; Kaname, Tadashi; Naritomi, Kenji; Narumi, Yoko; Wakui, Keiko; Fukushima, Yoshimitsu; Miyatake, Satoko; Mizuguchi, Takeshi; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1221
• Page End: 1237
• Publication Date: 2013-05-01
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35933
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35933-sec-0001" sec-type="section"> <p>Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)‐like chromatin remodeling complex have recently been reported to cause Coffin–Siris syndrome (CSS), Nicolaides–Baraitser syndrome (NCBRS), and <italic>ARID1B</italic>‐related intellectual disability (ID) syndrome. We detail here the genotype‐phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex: four with <italic>SMARCB1</italic> mutations, seven with <italic>SMARCA4</italic> mutations, 37 with <italic>SMARCA2</italic> mutations, one with an <italic>SMARCE1</italic> mutation, three with <italic>ARID1A</italic> mutations, and 33 with <italic>ARID1B</italic> mutations. The mutations were associated with syndromic ID and speech impairment (severe/profound in <italic>SMARCB1</italic>, <italic>SMARCE1</italic>, and <italic>ARID1A</italic> mutations; variable in <italic>SMARCA4</italic>, <italic>SMARCA2</italic>, and <italic>ARID1B</italic> mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. <italic>SMARCB1</italic> mutations caused "classical" CSS with typical facial "coarseness" and significant digital/nail hypoplasia. <italic>SMARCA4</italic> mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. <italic>SMARCA2</italic> mutations caused NCBRS, typically with short stature, sparse hair, a thin vermillion of the upper lip, an everted lower lip and prominent finger joints. A <italic>SMARCE1</italic> mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. <italic>ARID1A</italic> mutations caused the most severe CSS with severe physical complications. <italic>ARID1B</italic> mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID. Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as "SWI/SNF‐related ID syndromes". © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>