A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

    May 2011 in “ European Journal of Medical Genetics ”
    Stanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, Nicolas Lévy, Laurence Lamant, Benoı̂t Arveiler, Caroline Rooryck, Cathie Prouheze, Adeline Vigouroux, Dominique Chauveau, Patrick Calvas, Nicolas Chassaing
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    TLDR A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
    In 2011, a study described a 44-year-old female with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, who had a 10 Mb duplication on chromosome 5q31.3-5q33.1, identified by array-CGH. Her symptoms were similar to Barraquer-Simons syndrome, but she lacked common associated conditions like diabetes mellitus or dyslipidemia, and her renal issues were atypical. Genetic tests for known related genes LMNB2 and LMNA were negative. The duplication led researchers to consider the role of genes in that region, particularly PPARGC1B, in her symptoms, but further patient screenings did not support this. The study suggested using CGH array testing for patients with similar lipodystrophy to explore the role of copy number variations (CNVs) in the syndrome.
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