TY - JOUR
T1 - Clinical correlations of mutations affecting six components of the SWI/SNF complex
T2 - Detailed description of 21 patients and a review of the literature
AU - Kosho, Tomoki
AU - Okamoto, Nobuhiko
AU - Ohashi, Hirofumi
AU - Tsurusaki, Yoshinori
AU - Imai, Yoko
AU - Hibi-Ko, Yumiko
AU - Kawame, Hiroshi
AU - Homma, Tomomi
AU - Tanabe, Saori
AU - Kato, Mitsuhiro
AU - Hiraki, Yoko
AU - Yamagata, Takanori
AU - Yano, Shoji
AU - Sakazume, Satoru
AU - Ishii, Takuma
AU - Nagai, Toshiro
AU - Ohta, Tohru
AU - Niikawa, Norio
AU - Mizuno, Seiji
AU - Kaname, Tadashi
AU - Naritomi, Kenji
AU - Narumi, Yoko
AU - Wakui, Keiko
AU - Fukushima, Yoshimitsu
AU - Miyatake, Satoko
AU - Mizuguchi, Takeshi
AU - Saitsu, Hirotomo
AU - Miyake, Noriko
AU - Matsumoto, Naomichi
PY - 2013/6
Y1 - 2013/6
N2 - 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 ARID1B-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 SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 mutations, one with an SMARCE1 mutation, three with ARID1A mutations, and 33 with ARID1B mutations. The mutations were associated with syndromic ID and speech impairment (severe/profound in SMARCB1, SMARCE1, and ARID1A mutations; variable in SMARCA4, SMARCA2, and ARID1B mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. SMARCB1 mutations caused "classical" CSS with typical facial "coarseness" and significant digital/nail hypoplasia. SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. SMARCA2 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 SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. ARID1A mutations caused the most severe CSS with severe physical complications. ARID1B 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".
AB - 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 ARID1B-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 SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 mutations, one with an SMARCE1 mutation, three with ARID1A mutations, and 33 with ARID1B mutations. The mutations were associated with syndromic ID and speech impairment (severe/profound in SMARCB1, SMARCE1, and ARID1A mutations; variable in SMARCA4, SMARCA2, and ARID1B mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. SMARCB1 mutations caused "classical" CSS with typical facial "coarseness" and significant digital/nail hypoplasia. SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. SMARCA2 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 SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. ARID1A mutations caused the most severe CSS with severe physical complications. ARID1B 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".
KW - ARID1A
KW - ARID1B
KW - Coffin-Siris syndrome
KW - Intellectual disability (ID)
KW - Nicolaides-Baraitser syndrome
KW - SMARCA2
KW - SMARCA4
KW - SMARCB1
KW - SMARCE1
KW - SWI/SNF complex
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U2 - 10.1002/ajmg.a.35933
DO - 10.1002/ajmg.a.35933
M3 - Article
C2 - 23637025
AN - SCOPUS:84878236164
VL - 161
SP - 1221
EP - 1237
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 6
ER -