Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

    January 2022 in “ The Application of Clinical Genetics ”
    В. В. Забненкова, О. А. Щагина, Olga Makienko, Galina Matyushchenko, О. П. Рыжкова
    TLDR A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
    This study reports a 1-year and 3-month-old Russian female with Meier-Gorlin syndrome (MGS) who exhibited severe growth retardation, respiratory issues, and distinct facial and skeletal abnormalities. Genetic analysis revealed two novel compound-heterozygous variants in the CDC6 gene, crucial for DNA replication. The patient showed typical MGS features such as microtia, absent patellae, and severe pre- and postnatal growth retardation. Exome sequencing confirmed the CDC6 gene mutations, adding to the limited reports of CDC6-related MGS and highlighting the genetic heterogeneity and clinical variability of the syndrome. The study underscores the importance of exome sequencing in diagnosing rare genetic disorders.
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