<p>Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing. Assays for elevated alkaline phosphatase and exome sequencing can be useful for the diagnosis of hyperphosphatasia with mental retardation syndrome.</p>
S. Nampoothiri, Hebbar, M., Roy, A. Grace, Kochumon, S. P., Bielas, S., Shukla, A., and Girisha, K. M., “Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.”, J Pediatr Genet, vol. 6, no. 3, pp. 191-193, 2017.