Hebbar, Malavika and Shukla, Anju and Girisha, KM (2017) Hyperphosphatasia with mental retardation syndrome due to a novel mutation in PGAP3. Journal of Pediatric Genetics, 6 (3). pp. 191-193. ISSN 2146-4596

PDF RMS - 00003074.pdf - Published Version Restricted to Registered users only Download (177kB) | Request a copy

Abstract

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.

Actions (login required)

View Item