Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

Sheela Nampoothiri; Malavika Hebbar; Arun Grace Roy; Sheena P Kochumon; Stephanie Bielas; Anju Shukla; Katta M Girisha

doi:10.1055/s-0037-1599148

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

J Pediatr Genet. 2017 Sep;6(3):191-193. doi: 10.1055/s-0037-1599148. Epub 2017 Mar 7.

Authors

Sheela Nampoothiri¹, Malavika Hebbar², Arun Grace Roy³, Sheena P Kochumon¹, Stephanie Bielas⁴, Anju Shukla², Katta M Girisha²

Affiliations

¹ Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India.
² Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
³ Department of Pediatric Neurology, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India.
⁴ Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States.

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.

Keywords: PGAP3; alkaline phosphatase; exome sequencing; hyperphosphatasia with mental retardation syndrome.

Publication types

Case Reports

Grants and funding

R21 NS094047/NS/NINDS NIH HHS/United States