Childhood hypophosphatasia with homozygous mutation of ALPL

Supamit Ukarapong, Shankar Srinivas Ganapathy, Jaime Haidet, Gary Berkovitz

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Objective: To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia.Methods: Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented.Results: A 13-year-old male presented with chronic left knee pain. Radiogram of the left knee indicated two oval radiolucent lesions in the femoral metaphysis. Serum alkaline phosphatase activity (17 U/L) was markedly below normal (42 to 362 U/L). Serum pyridoxal 5' phosphate (258 μg/L) was above normal (5 to 50 μg/L). Sequence analysis of ALPL gene indicated a homozygous missense mutation c.1077 C>G (p. I359M). The mutation was previously identified in a case of perinatal hypophosphatasia with severe skeletal abnormalities in contrast to the mild phenotype of the patient we present.Conclusion: The case of homozygous mutation of ALPL gene but mild form of hypophosphatasia suggests that functions of the mutated protein may be modified by other factors.

Original languageEnglish
Pages (from-to)e198-e201
JournalEndocrine Practice
Volume20
Issue number10
DOIs
StatePublished - Jan 1 2014

Fingerprint

Mutation
Knee
Hypophosphatasia
Genes
Phenotype
Pyridoxal Phosphate
Genetic Testing
Missense Mutation
Thigh
Serum
Alkaline Phosphatase
Sequence Analysis
Molecular Biology
Pain
Childhood Hypophosphatasia
Proteins
Adult Hypophosphatasia

Keywords

  • D = aspartate
  • I = isoleucine
  • M = methionine
  • MRI = magnetic resonance imaging
  • V = valine

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Childhood hypophosphatasia with homozygous mutation of ALPL. / Ukarapong, Supamit; Ganapathy, Shankar Srinivas; Haidet, Jaime; Berkovitz, Gary.

In: Endocrine Practice, Vol. 20, No. 10, 01.01.2014, p. e198-e201.

Research output: Contribution to journalArticle

Ukarapong, Supamit ; Ganapathy, Shankar Srinivas ; Haidet, Jaime ; Berkovitz, Gary. / Childhood hypophosphatasia with homozygous mutation of ALPL. In: Endocrine Practice. 2014 ; Vol. 20, No. 10. pp. e198-e201.
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