Approach to overgrowth syndromes in the genome era

doi:10.1002/ajmg.c.31757

Review

. 2019 Dec;181(4):483-490.

doi: 10.1002/ajmg.c.31757. Epub 2019 Dec 2.

Approach to overgrowth syndromes in the genome era

Deepika D Burkardt¹, Katrina Tatton-Brown^{2

3

4}, William Dobyns⁵, John M Graham Jr⁶

Affiliations

¹ Center for Human Genetics, University Hospitals, Cleveland, Ohio.
² South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
³ St George's University of London, London, UK.
⁴ Institute of Cancer Research, Surrey, UK.
⁵ Department of Pediatrics and Neurology, University of Washington School of Medicine, and Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington.
⁶ Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.

PMID: 31793186
DOI: 10.1002/ajmg.c.31757

Review

Approach to overgrowth syndromes in the genome era

Deepika D Burkardt et al. Am J Med Genet C Semin Med Genet. 2019 Dec.

. 2019 Dec;181(4):483-490.

doi: 10.1002/ajmg.c.31757. Epub 2019 Dec 2.

Authors

Deepika D Burkardt¹, Katrina Tatton-Brown^{2

3

4}, William Dobyns⁵, John M Graham Jr⁶

Affiliations

¹ Center for Human Genetics, University Hospitals, Cleveland, Ohio.
² South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
³ St George's University of London, London, UK.
⁴ Institute of Cancer Research, Surrey, UK.
⁵ Department of Pediatrics and Neurology, University of Washington School of Medicine, and Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington.
⁶ Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.

PMID: 31793186
DOI: 10.1002/ajmg.c.31757

Abstract

This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the terminology associated with overgrowth, review some common pathways to overgrowth and present a preliminary classification based on currently known genomic and epigenetic mechanisms. We introduce the articles of this issue-new research and reviews of well-established and recently described overgrowth syndromes of the brain, body or both.

Keywords: epigenetic regulation; macrocephaly; megalencephaly; overgrowth.

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Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome.
Papulino C, Chianese U, Nicoletti MM, Benedetti R, Altucci L. Papulino C, et al. Front Genet. 2020 Sep 15;11:563718. doi: 10.3389/fgene.2020.563718. eCollection 2020. Front Genet. 2020. PMID: 33101381 Free PMC article. Review.
Clinical and genetic analyses of patients with lateralized overgrowth.
Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, Do HS, Jang JH, Yum MS, Yoo HW, Lee BH. Kim YM, et al. BMC Med Genomics. 2022 Sep 30;15(1):206. doi: 10.1186/s12920-022-01362-1. BMC Med Genomics. 2022. PMID: 36175890 Free PMC article.
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. Pirozzi F, et al. Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34087052 Free PMC article. Review.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Eur J Hum Genet. 2024 Aug;32(8):928-937. doi: 10.1038/s41431-024-01610-1. Epub 2024 Apr 27. Eur J Hum Genet. 2024. PMID: 38678163 Free PMC article.
Selective requirement for polycomb repressor complex 2 in the generation of specific hypothalamic neuronal subtypes.
Yaghmaeian Salmani B, Balderson B, Bauer S, Ekman H, Starkenberg A, Perlmann T, Piper M, Bodén M, Thor S. Yaghmaeian Salmani B, et al. Development. 2022 Mar 1;149(5):dev200076. doi: 10.1242/dev.200076. Epub 2022 Mar 4. Development. 2022. PMID: 35245348 Free PMC article.

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References

REFERENCES

1. Abramowicz, J. S., & Ahn, J. I. (2018). Fetal Macrosomia. In D. Levin (Ed.), UpToDate. Waltham, MA: UpToDate Inc.. https://www.uptodate.com
1. Boulet, S. L., Alexander, G. R., Salihu, H. M., & Pass, M. (2003). Macrosomic births in the United States: Determinants, outcomes, and proposed grades of risk. American Journal of Obstetrics and Gynecology, 188(5), 1372-1378.
1. Biesecker, L., Sapp, J., Buser, A., Burton-Akright, J., & Keppler-Noreuil, K. (2019). A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. [Epub ahead of print].
1. Bizzotto, S., Uzquiano, A., Dingli, F., Ershov, D., Houllier, A., Arras, G., … Francis, F. (2017). Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. Scientific Reports, 7(1), 17308. https://doi.org/10.1038/s41598-017-15253-4
1. Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., … Maher, E. R. (2018). Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nature Reviews Endocrinology, 14(4), 229-249. https://doi.org/10.1038/nrendo.2017.166

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[1] Abramowicz, J. S., & Ahn, J. I. (2018). Fetal Macrosomia. In D. Levin (Ed.), UpToDate. Waltham, MA: UpToDate Inc.. https://www.uptodate.com

[2] Abramowicz, J. S., & Ahn, J. I. (2018). Fetal Macrosomia. In D. Levin (Ed.), UpToDate. Waltham, MA: UpToDate Inc.. https://www.uptodate.com

[3] Boulet, S. L., Alexander, G. R., Salihu, H. M., & Pass, M. (2003). Macrosomic births in the United States: Determinants, outcomes, and proposed grades of risk. American Journal of Obstetrics and Gynecology, 188(5), 1372-1378.

[4] Boulet, S. L., Alexander, G. R., Salihu, H. M., & Pass, M. (2003). Macrosomic births in the United States: Determinants, outcomes, and proposed grades of risk. American Journal of Obstetrics and Gynecology, 188(5), 1372-1378.

[5] Biesecker, L., Sapp, J., Buser, A., Burton-Akright, J., & Keppler-Noreuil, K. (2019). A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. [Epub ahead of print].

[6] Biesecker, L., Sapp, J., Buser, A., Burton-Akright, J., & Keppler-Noreuil, K. (2019). A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. [Epub ahead of print].

[7] Bizzotto, S., Uzquiano, A., Dingli, F., Ershov, D., Houllier, A., Arras, G., … Francis, F. (2017). Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. Scientific Reports, 7(1), 17308. https://doi.org/10.1038/s41598-017-15253-4

[8] Bizzotto, S., Uzquiano, A., Dingli, F., Ershov, D., Houllier, A., Arras, G., … Francis, F. (2017). Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. Scientific Reports, 7(1), 17308. https://doi.org/10.1038/s41598-017-15253-4

[9] Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., … Maher, E. R. (2018). Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nature Reviews Endocrinology, 14(4), 229-249. https://doi.org/10.1038/nrendo.2017.166

[10] Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., … Maher, E. R. (2018). Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nature Reviews Endocrinology, 14(4), 229-249. https://doi.org/10.1038/nrendo.2017.166

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Approach to overgrowth syndromes in the genome era

Affiliations

Approach to overgrowth syndromes in the genome era

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