Tsurusaki et al. (2012) identified ARID1A mutations in 3 individuals with a multiple congenital anomaly/mental retardation syndrome (MRD14) classified by them as Coffin-Siris syndrome (135900). All 3 individuals had developmental delay, abnormal corpus callosum, absent/hypoplastic fifth finger/toenails, sparse ... Tsurusaki et al. (2012) identified ARID1A mutations in 3 individuals with a multiple congenital anomaly/mental retardation syndrome (MRD14) classified by them as Coffin-Siris syndrome (135900). All 3 individuals had developmental delay, abnormal corpus callosum, absent/hypoplastic fifth finger/toenails, sparse scalp hair, long eyelashes, and a coarse facial appearance with wide mouth, thick lips, and abnormal ears. Seizures, ptosis, and macroglossia were not reported. All had feeding and sucking problems as well as frequent infections and cardiac findings. Two of 3 examined had short stature, and 2 of 2 examined had absent/hypoplastic fifth phalanx of hands and feet.
The 3 mutations in the ARID1A gene identified by Tsurusaki et al. (2012) in individuals with MRD14 comprised a frameshift (603024.0001) and 2 premature termination mutations (603024.0002, 603024.0003). The subject with the frameshift mutation presented with hepatoblastoma. Haploinsufficiency ... The 3 mutations in the ARID1A gene identified by Tsurusaki et al. (2012) in individuals with MRD14 comprised a frameshift (603024.0001) and 2 premature termination mutations (603024.0002, 603024.0003). The subject with the frameshift mutation presented with hepatoblastoma. Haploinsufficiency and/or homozygous inactivation of ARID1A have been found in several types of cancer, but not in hepatoblastoma.