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Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report

By:
W Bu,  M Zhu,  S Li,  H Liu and  X Liu  
Open Access
|Jun 2022

References

  1. Pilia G, Hughes-Benzie RM, MacKenzie A, Bay-bayan P, Chen EY, Huber R, et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel over-growth syndrome. Nat Genet. 1996; 12(3): 241–247.
  2. Cottereau E, Mortemousque I, Moizard M-P, Bürglen L, Lacombe D, Gilbert-Dussardier B, et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet. 2013; 163C(2): 92–105.
  3. Vuillaume M-L, Moizard M-P, Rossignol S, Cottereau E, Vonwill S, Alessandri J-L, et al. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. Hum Mutat. 2018; 39(6): 790–805.
  4. Pénisson-Besnier I, Lebouvier T, Moizard M-P, Ferré M, Barth M, Marc G, et al. Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2008; 146A(4): 464–467.
  5. Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, et al. A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Am J Med Genet A. 2013; 161A(12): 3121–3125.
  6. Zhang J, Mu K, Xu H, Guo Y, Liu Z, Wang L, et al. Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. Medicine (Baltimore). 2019; 98(43). e17616.
  7. Andrysiak-Mamos E, Sagan KP, Lietz-Kijak D, Kijak E, Kaźmierczak B, Pietrzyk A, et al. Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study. Am J Med Genet A. 2019; 179(2): 322–328.
  8. Ortiz MV, Roberts SS, Glade Bender J, Shukla N, Wexler LH. Immunotherapeutic targeting of GPC3 in pediatric solid embryonal tumors. Front Oncol. 2019; 9: 108. eCollection 2019.
Language: English
Page range: 95 - 98
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2022 W Bu, M Zhu, S Li, H Liu, X Liu, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.