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Fabrication and Design of Wood-Based High-Performance Composites
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MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS.

P Ozyavuz Cubuk, L Ho, B Reversade

    Genetic Counseling (Geneva, Switzerland)
    |September 12, 2018
    PubMed
    Summary

    Matthew-Wood syndrome (MWS) is a rare genetic disorder affecting multiple organs. This study identified a novel homozygous mutation in the STRA6 gene, expanding our understanding of MWS genetics and clinical presentation.

    Area of Science:

    • Genetics and Molecular Biology
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Matthew-Wood syndrome (MWS), also known as Microphthalmia, syndrome 9 (MCOPS9), is an autosomal recessive disorder.
    • MWS is characterized by ocular, respiratory, and cardiac abnormalities.
    • Mutations in the STRA6 gene have been previously linked to MWS.

    Purpose of the Study:

    • To present a case of MWS with previously undescribed features.
    • To investigate the genetic basis of MWS in the presented case.
    • To expand the known clinical spectrum and genetic variations associated with MWS.

    Main Methods:

    • Clinical examination of the patient, focusing on characteristic MWS features and novel findings.
    • Molecular genetic analysis to identify mutations in the STRA6 gene.

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  • Review of existing literature for comparison with the presented case.
  • Main Results:

    • The patient presented with classic MWS features, including ocular, respiratory, and cardiac abnormalities.
    • Undescribed features in this MWS case included dextrocardia and bilateral streak gonads.
    • Molecular analysis revealed a homozygous exonic missense mutation in the STRA6 gene.

    Conclusions:

    • The identified STRA6 mutation provides further evidence for its role in MWS pathogenesis.
    • The case expands the phenotypic spectrum of MWS, highlighting dextrocardia and streak gonads as potential features.
    • This finding contributes to a better understanding of STRA6-related developmental disorders.