Ophthalmic manifestations associated with RARB mutations

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

“…In addition to the 25 affected individuals with novel variants, we report here 5 new individuals with known variants, including p.(Arg387Cys) (n = 3), p.(Arg387Ser) (n = 1), and p.(Leu213Pro) (n = 1), and we provide additional clinical information about previously described individuals with the variants p.(His291Leu) and p.(Ser398*) (Supplemental Table 1). 13,15 In total, by combining these 32 cases with 20 previously reported ones, 3,4,12,14,[16][17][18][19] we obtained a series of 52 individuals carrying likely pathogenic or pathogenic dominant variants in RARB (total of 26 variants) for whom we have access to some clinical data (Table 1, Supplemental Table 1). Two cases were fetuses from terminated pregnancies and 6 individuals were deceased, including 4 neonatal deaths caused by respiratory failure related to diaphragmatic hernia/eventration and 2 deaths in older children from infections in the context of severe motor impairment.…”

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

“…We identified a heterozygous RARB variant in P65 (1/95 = 1%; 1/34 = 3% of positive cases) who displayed bilateral complex microphthalmia (with PA and cataract) and spastic tetraparesis. This novel c.1151G>A p.(Gly384Asp) missense variant alters a conserved amino acid close to the p.Arg387Cis/Ser/Leu hotspot previously described in individuals with ASD, DD and spastic paraparesis 33 …”

“…This novel c.1151G>A p.(Gly384Asp) missense variant alters a conserved amino acid close to the p.Arg387Cis/Ser/Leu hotspot previously described in individuals with ASD, DD and spastic paraparesis. 33 3.5.3 | COL4A1 (NM_001845.6)…”