A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle Ward, William T. Gibson, Tracy Dudding-Byth, Rodney J. Scott

Research output: Contribution to journalReview article

15 Citations (Scopus)

Abstract

The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. There has been a recent expansion in the number of genes associated with a mendelian overgrowth phenotype, so this review updates previous classifications of overgrowth syndromes. We also describe a clinical and molecular approach to the investigation of individuals presenting with overgrowth. This review aims to assist the clinical diagnosis of generalized overgrowth syndromes by outlining the salient features of well-known overgrowth syndromes alongside the many syndromes that have been discovered and classified more recently. We provide key clinical “handles” to aid clinical diagnosis and a list of genes to aid with panel design when using next generation sequencing, which we believe is frequently needed due to the overlapping phenotypic features seen between overgrowth syndromes.

Original languageEnglish
Pages (from-to)70-82
JournalMolecular Syndromology
Volume9
Issue number2
DOIs
Publication statusPublished - 2018

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    Kamien, B., Ronan, A., Poke, G., Sinnerbrink, I., Baynam, G., Ward, M., Gibson, W. T., Dudding-Byth, T., & Scott, R. J. (2018). A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing. Molecular Syndromology, 9(2), 70-82. https://doi.org/10.1159/000484532