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Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.

European Journal of Human Genetics volume 31, pages 853–855 (2023)Cite this article

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The Original Article was published on 14 April 2023

Meier-Gorlin syndrome (MGORS) is a rare genetic disorder characterized by severe intrauterine and post-natal growth retardation, which are usually accompanied by bilateral microtia, and aplasia or hypoplasia of the patellae. Although these three features may not be consistently observed, especially in the most recently reported MGORS individuals, they have long represented the classical “triad” allowing for the clinical diagnosis of the syndrome [1, 2]. Further developmental malformations may affect the respiratory, gastrointestinal, skeletal, and genitourinary systems, with highly variable severity and penetrance [1].

Although the overall number of MGORS patients reported in the literature is still limited, both the phenotype and the genetic heterogeneity associated with the syndrome are rapidly expanding, as illustrated in this issue of the European Journal of Human Genetics by Emily Nielsen-Dandoroff, Mischa S G Ruegg, and Louise S Bicknell [2].

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Fig. 1: The figure summarizes the products of MGORS-associated genes, their roles in DNA replication, and their interactors.

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No financial assistance was received in support of the study.

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  1. Neuroscience Department, Meyer Children’s Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy

    Annalisa Vetro

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  1. Annalisa Vetro
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AV reviewed the original literature and wrote the paper.

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Correspondence to Annalisa Vetro.

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Vetro, A. Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.. Eur J Hum Genet 31, 853–855 (2023). https://doi.org/10.1038/s41431-023-01397-7

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