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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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[Arthrogryposis multiplex congenita].

Karen Markussen Linnet1, Thomas Balslev, Bjarne Møller-Madsen

  • 1Børneafdelingen, Aarhus Universitetshospital, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N. karelinn@rm.dk.

Ugeskrift for Laeger
|September 1, 2015
PubMed
Summary

Arthrogryposis multiplex congenita (AMC) is a congenital condition characterized by joint contractures. Understanding its classification is crucial for accurate diagnosis and effective treatment planning.

Area of Science:

  • Pediatric Orthopedics
  • Developmental Biology
  • Genetics

Background:

  • Arthrogryposis multiplex congenita (AMC) presents as joint contractures in multiple body areas, affecting 1:3,000-5,000 live births.
  • It is a sign, not a diagnosis, with diverse primary etiologies impacting fetal development.
  • Amyoplasia is a common form of AMC, often associated with central nervous system disorders.

Purpose of the Study:

  • To highlight the significance of AMC classification for diagnosis and treatment.
  • To provide an overview of the etiologies and common types of AMC.
  • To emphasize the need for specialized medical follow-up.

Main Methods:

  • Literature review on AMC classification and etiology.
  • Analysis of prevalence and associated conditions.

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  • Synthesis of current understanding of AMC pathogenesis.

    • Main Results:

    • AMC encompasses various underlying causes, including neuropathic, myopathic, metabolic, end plate, and vascular disorders.
    • Fetal space limitation can contribute to AMC development.
    • Accurate classification aids in tailoring management strategies.

    Conclusions:

    • Classification of AMC is essential for accurate diagnosis and effective treatment planning.
    • Multidisciplinary follow-up by pediatric orthopedists and neurologists is recommended.
    • Further research into specific etiologies can improve patient outcomes.