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The type XI collagenopathies

J Spranger1

  • 1Univ.Kinderklinik, Langenbeckstrasse 1, D-55 131 Mainz, Germany.

Pediatric Radiology
|November 3, 1998
PubMed
Summary
This summary is machine-generated.

Mutations in type XI collagen genes cause rare genetic disorders affecting cartilage. These conditions lead to distinctive facial, hearing, and skeletal abnormalities, highlighting collagen

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Area of Science:

  • Biochemistry
  • Genetics
  • Orthopedics

Background:

  • Type XI collagen, a minor cartilage component, plays a crucial role in skeletal development.
  • Mutations in type XI collagen genes result in a distinct spectrum of clinical and radiographic phenotypes.
  • These phenotypes share similarities with certain type II collagen disorders, complicating diagnosis.

Purpose of the Study:

  • To define and characterize type XI collagenopathies based on molecular and clinical findings.
  • To differentiate type XI collagenopathies from phenotypically similar type II collagenopathies.

Main Methods:

  • Analysis of clinical presentations, including facial anomalies, hearing defects, and ocular changes.
  • Radiographic assessment of skeletal abnormalities, such as epiphyseal dysplasias and spondylar defects.

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  • Molecular studies to identify specific gene mutations associated with collagen disorders.

    • Main Results:

    • Three distinct type XI collagenopathies identified: Stickler syndrome type II, dominant oto-spondylo-megaepiphyseal dysplasia (OSMED), and recessive OSMED.
    • Clinical features include facial dysmorphism, hearing loss, cleft palate, and characteristic skeletal abnormalities.
    • Significant overlap in clinical and radiographic findings exists between type XI and type II collagenopathies.

    Conclusions:

    • Type XI collagenopathies represent a group of genetically distinct disorders arising from mutations in type XI collagen genes.
    • Accurate diagnosis requires integrating clinical, radiographic, and molecular data.
    • These disorders are part of a broader family of inborn errors affecting cartilage collagen formation.