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

Sheela Nampoothiri1, Malavika Hebbar2, Arun Grace Roy3

  • 1Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India.

Journal of Pediatric Genetics
|August 11, 2017
PubMed

Insights

Hyperphosphatasia with mental retardation syndrome, a genetic disorder, was diagnosed in two siblings with developmental delay. Whole-exome sequencing identified a novel PGAP3 gene variant, aiding diagnosis.

Area of Science:

  • Genetics
  • Biochemistry
  • Developmental Biology

Background:

  • Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare, genetically heterogeneous disorder.
  • It is characterized by elevated alkaline phosphatase, intellectual disability, and distinct facial features.

Observation:

  • Two siblings presented with global developmental delay and facial dysmorphism.
  • Clinical evaluation prompted genetic investigation.

Findings:

  • Whole-exome sequencing identified a novel missense variant (c.851A>G, p.H284R) in the PGAP3 gene in both affected siblings.
  • This genetic finding provides a molecular basis for their condition.

Implications:

  • The identification of this PGAP3 variant expands the known genetic causes of HPMRS.
  • Elevated alkaline phosphatase assays and exome sequencing are crucial diagnostic tools for HPMRS.
  • This discovery aids in understanding the molecular mechanisms underlying HPMRS and facilitates genetic counseling.

Keywords:
PGAP3alkaline phosphataseexome sequencinghyperphosphatasia with mental retardation syndrome

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