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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT
Kento Nomura1, Yoichiro Oda2, Shuhei Yamaguchi1
1Department of Pediatrics, Ohta General Hospital Foundation, Ohta Nishinouchi Hospital, Koriyama, JPN.
Cureus
|June 1, 2026
Summary
This case report details a male infant diagnosed with Osteogenesis Imperfecta type 4, despite initial suspicion of Hypophosphatasia. The findings suggest the ALPL carrier state may not significantly alter OI phenotypes.
Area of Science:
- Genetics
- Pediatrics
- Metabolic Diseases
Background:
- Osteogenesis Imperfecta (OI) is a genetic disorder affecting collagen, leading to brittle bones.
- Hypophosphatasia (HPP) is a metabolic bone disease caused by low alkaline phosphatase (ALP) activity.
- Distinguishing OI and HPP can be challenging due to overlapping symptoms like bone deformities.
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01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life