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Noonan syndrome: the changing phenotype.

J E Allanson, J G Hall, H E Hughes

    American Journal of Medical Genetics
    |July 1, 1985
    PubMed
    Summary

    Noonan syndrome (NS) exhibits significant phenotypic variability and changes with age, potentially leading to misdiagnosis. Subtle adult manifestations require careful examination in parents of affected children to understand genetic inheritance patterns.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Medical Genetics

    Background:

    • Noonan syndrome (NS) is a multiple congenital anomalies (MCA) syndrome characterized by cardiofacial features, short stature, and mild intellectual disability.
    • Autosomal dominant inheritance with variable expressivity is typical for NS, but genetic heterogeneity has been suspected due to phenotypic variability.
    • Mildly affected individuals can be challenging to identify as carriers, potentially mimicking autosomal recessive inheritance in families with multiple affected siblings.

    Purpose of the Study:

    • To evaluate the impact of age-related phenotypic changes on the genetic assessment of Noonan syndrome.
    • To determine if subtle adult phenotypes are overlooked in genetic studies of Noonan syndrome.
    • To investigate the likelihood of missed gene carriers within families due to evolving clinical presentations.

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    Main Methods:

    • Analysis of serial and family photographs of individuals with Noonan syndrome across different age groups.
    • Systematic review of clinical documentation to track phenotypic changes from infancy to adulthood.
    • Comparison of observed variability with expected patterns of autosomal dominant inheritance.

    Main Results:

    • Confirmed significant clinical variability within families affected by Noonan syndrome.
    • Documented marked changes in phenotype with age, from infancy through adulthood.
    • Identified subtle adult manifestations in some individuals, who might have been considered normal in the past.
    • Observed that age-related phenotypic evolution may be misinterpreted as clinical heterogeneity.

    Conclusions:

    • Age-related phenotypic changes in Noonan syndrome can be substantial and may lead to underestimation of gene carrier status.
    • The study suggests that perceived clinical heterogeneity might be largely explained by developmental changes in phenotype.
    • A thorough search for subtle phenotypes in parents is crucial for accurate genetic counseling in Noonan syndrome.