Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 May;163C(2):92-105.
doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

Affiliations
Review

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

Edouard Cottereau et al. Am J Med Genet C Semin Med Genet. 2013 May.

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified as the major gene causing SGBS but the mutation detection rate was only 28-70%, suggesting either genetic heterogeneity or that some patients could have alternative diagnoses. This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC4 have yet been reported. In the genetics laboratory in Tours Hospital, GPC3 molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. In addition, GPC4 mutations have not been identified thus raising the question of frequent misdiagnosis. In order to better delineate the phenotypic spectrum of SGBS caused by GPC3 mutations, and to try to define specific clinical criteria for GPC3 molecular testing, we reviewed the clinical features of all male cases with a GPC3 mutation identified in the two molecular laboratories providing this test in France (Tours and Paris). We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates.

PubMed Disclaimer

Similar articles

Cited by

  • GPC3-Unc5 receptor complex structure and role in cell migration.
    Akkermans O, Delloye-Bourgeois C, Peregrina C, Carrasquero-Ordaz M, Kokolaki M, Berbeira-Santana M, Chavent M, Reynaud F, Raj R, Agirre J, Aksu M, White ES, Lowe E, Ben Amar D, Zaballa S, Huo J, Pakos I, McCubbin PTN, Comoletti D, Owens RJ, Robinson CV, Castellani V, Del Toro D, Seiradake E. Akkermans O, et al. Cell. 2022 Oct 13;185(21):3931-3949.e26. doi: 10.1016/j.cell.2022.09.025. Cell. 2022. PMID: 36240740 Free PMC article.
  • Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.
    Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T. Shimojima K, et al. Hum Genome Var. 2016 Oct 13;3:16033. doi: 10.1038/hgv.2016.33. eCollection 2016. Hum Genome Var. 2016. PMID: 27790374 Free PMC article.
  • Genetic Predisposition to Solid Pediatric Cancers.
    Capasso M, Montella A, Tirelli M, Maiorino T, Cantalupo S, Iolascon A. Capasso M, et al. Front Oncol. 2020 Oct 28;10:590033. doi: 10.3389/fonc.2020.590033. eCollection 2020. Front Oncol. 2020. PMID: 33194750 Free PMC article. Review.
  • The influence of genetics in congenital diaphragmatic hernia.
    Yu L, Hernan RR, Wynn J, Chung WK. Yu L, et al. Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1. Semin Perinatol. 2020. PMID: 31443905 Free PMC article. Review.
  • Pathogenic Variants in GPC4 Cause Keipert Syndrome.
    Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.

Supplementary concepts

LinkOut - more resources