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J Pediatr Genet 2017; 06(03): 191-193
DOI: 10.1055/s-0037-1599148
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Sheela Nampoothiri
1   Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India
,
Malavika Hebbar
2   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Arun Grace Roy
3   Department of Pediatric Neurology, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India
,
Sheena P. Kochumon
1   Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India
,
Stephanie Bielas
4   Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States
,
Anju Shukla
2   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Katta M. Girisha
2   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
› Author Affiliations
Further Information

Publication History

16 November 2016

16 January 2017

Publication Date:
07 March 2017 (online)

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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

hyperphosphatasia with mental retardation syndrome - PGAP3 - exome sequencing - alkaline phosphatase

Note

A. S. and M. H. drafted the manuscript and analyzed the exome sequencing data. S. N. and A. G. R. are the clinicians involved in the evaluation of the patient. S. P. K. evaluated the patients and did literature search. S. B. and K. M. G. supervised the entire work. All contributors have read and approved the manuscript.


 

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