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Related Experiment Video

Updated: Jun 1, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.

Hiroshi Kaneko1, Hiroshi Kitoh, Tohru Matsuura

  • 1Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan.

Human Genetics
|May 20, 2011
PubMed
Summary

Autosomal dominant osteogenesis imperfecta (OI) is linked to COL1A1 mutations. A Japanese family with mild OI and juvenile hyperuricemia showed a novel GPATCH8 variant, suggesting a potential new genetic link for hyperuricemia in OI patients.

Related Experiment Videos

Last Updated: Jun 1, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease

Background:

  • Autosomal dominant osteogenesis imperfecta (OI) is primarily caused by mutations in COL1A1 or COL1A2.
  • The c.3235G>A mutation in COL1A1 exon 45 is associated with mild to lethal OI phenotypes.
  • Co-occurrence of juvenile-onset hyperuricemia with OI was observed in a Japanese family.

Purpose of the Study:

  • To investigate the genetic basis of mild osteogenesis imperfecta (OI) in a Japanese family.
  • To identify the genetic cause of juvenile-onset hyperuricemia co-segregating with OI.
  • To explore the relationship between COL1A1 mutations and associated metabolic phenotypes.

Main Methods:

  • Whole-exome sequencing was performed on siblings from the Japanese family.
  • Candidate gene analysis included PRPSAP1, PRPSAP2, ABCG2, SLC22A12, ZPBP2, and GPATCH8.
  • In silico analysis was used to predict the pathogenicity of identified variants.

Main Results:

  • A dominant missense mutation c.3235G>A (p.G1079S) in COL1A1 was identified in the Japanese family with mild OI.
  • Juvenile hyperuricemia cosegregated with OI in the Japanese family, but not in previously reported families with the same COL1A1 mutation.
  • Two missense variants, ZPBP2 p.T69I and GPATCH8 p.A979P, were identified and cosegregated with hyperuricemia in the Japanese family; GPATCH8 p.A979P was predicted to be deleterious.

Conclusions:

  • The COL1A1 p.G1079S mutation is associated with mild osteogenesis imperfecta.
  • A novel variant in GPATCH8 (p.A979P) is a potential candidate gene for juvenile-onset hyperuricemia co-occurring with OI.
  • This study highlights the potential for genetic heterogeneity in OI and associated metabolic disorders.