Short stature is a frequent feature associated with patients with ARID1B mutations
A total of 70 patients with mutations in ARID1B (including translocation, deletion, duplication, nonsense and truncating mutations) have been described in the literature and Decipher database, many of whom have Coffin-Siris syndrome. We summarize the available clinical features of these patients in Table 1. Five patients had no height information. 22 out of the remaining 65 patients (33.8 %) had short stature. 90 % of patients have height Z-scores below -1 SD. None of the patients had height Z-scores above 0 SD. The average available Z score among patients with mutations in ARID1B is -1.86 SD. Thus, growth retardation and short stature is a common feature associated with mutations in ARID1B and Coffin-Siris syndrome.
Table 1 Clinical features of patients with ARID1B mutationsa1–8 Halgren et al., 9–17 Hoyer et al., 18–45 Santen et al. (2013), 46-48 santen et al. (2012), 49 Michelson et al., 50–53 Nagamani et al., 54 Pirola et al., 55 Narahara et al., 56–57 Sukumar et al., 58 Hopkin et al., 59 Meng et al., 60–64 Tsurusaki et al., 65–70 from decipher database
bThe following abbreviations are used: F female, M male, OFC occipital-frontal circumference, + present, − absent, NA not analyzed, NS not stated, ACC agenesis of corpus callosum, ASD atrial septum defect, trans translocation, del deletion, dup duplication, fx frameshift