Tsurusaki et al. (2012) described 6 individuals with a syndromic form of mental retardation classified as Coffin-Siris syndrome (CSS; 135900) who carried mutations in the SMARCA4 gene. All patients had developmental delay, 4 had hypotonia, and 4 of ... Tsurusaki et al. (2012) described 6 individuals with a syndromic form of mental retardation classified as Coffin-Siris syndrome (CSS; 135900) who carried mutations in the SMARCA4 gene. All patients had developmental delay, 4 had hypotonia, and 4 of 5 examined had microcephaly. Two of the 6 had seizures, and 1 of 5 examined had a Dandy-Walker malformation. Five of the 6 had vision problems and half had hearing problems; all had absent or hypoplastic fifth fingernails or toenails; all were hirsute; and 3 of the 6 had sparse scalp hair. All had thick eyebrows and long eyelashes.
In 6 individuals with a syndromic but nonspecific form of mental retardation, Tsurusaki et al. (2012) identified an in-frame deletion (603254.0002) and 5 different missense mutations (603254.0003-603254.0007) in SMARCA4. In 5 cases the mutation was shown to have ... In 6 individuals with a syndromic but nonspecific form of mental retardation, Tsurusaki et al. (2012) identified an in-frame deletion (603254.0002) and 5 different missense mutations (603254.0003-603254.0007) in SMARCA4. In 5 cases the mutation was shown to have occurred de novo; in the sixth parental DNA was not available.