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Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report.

Smitha Elizabeth Mathew1, Mona Santhanam, Vrisha Madhuri

  • 1Paediatric Orthopaedic Unit, Christian Medical College, Ida Scudder Road, Vellore - 632004, Tamil Nadu, India. madhuriwalter@cmcvellore.ac.in.

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Summary

A rare genetic mutation in interferon-induced transmembrane protein 5 was identified in a child with type-V osteogenesis imperfecta. This finding aids in diagnosing this brittle bone disorder.

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Area of Science:

  • Genetics
  • Pediatrics
  • Orthopedics

Background:

  • Osteogenesis imperfecta (OI) comprises a group of genetic disorders characterized by bone fragility.
  • Type-V OI presents with specific radiological and clinical features, including bone deformities and calcifications.

Purpose of the Study:

  • To report a case of type-V osteogenesis imperfecta in a pediatric patient.
  • To identify the genetic basis of the condition in the presented case.

Main Methods:

  • Clinical examination of a nine-year-old girl with symptoms of bone fragility.
  • Radiographic assessment including bone fragility, radial head dislocation, and metaphyseal bands.
  • Genetic analysis to identify mutations in the interferon-induced transmembrane protein 5 gene.

Main Results:

  • A heterozygous mutation c.-14C>T in the 5'-untranslated region of the interferon-induced transmembrane protein 5 gene was identified.
  • The patient exhibited classic features of type-V osteogenesis imperfecta, including bone fragility and radial head dislocation, with absence of blue sclerae, hearing loss, and dentinogenesis imperfecta.

Conclusions:

  • The identified gene mutation, alongside clinical and radiographic findings, confirms the diagnosis of type-V osteogenesis imperfecta.
  • Distinguishing type-V OI from other conditions like infantile cortical hypertrophy or osteosarcoma is crucial for appropriate management.