Simpson-Golabi-Behmel syndrome.
| Autor: | Vaisfeld A; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Neri G; Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy. |
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| Jazyk: | angličtina |
| Zdroj: | American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 May 20, pp. e32088. Date of Electronic Publication: 2024 May 20. |
| DOI: | 10.1002/ajmg.c.32088 |
| Abstrakt: | The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely affected cases. An increased risk of neoplasia is reported, requiring periodical surveillance. Intellectual development is normal in most cases. SGBS is caused by a loss-of-function mutation of the GPC3 gene, either deletions or point mutations, distributed all over the gene. Notably, GPC3 deletion/point mutations are not found in a significant proportion of clinically diagnosed SGBS cases. The protein product GPC3 is a glypican functioning as a receptor for Hh at the cell surface, involved in the Hh-Ptc-Smo signaling pathway, a regulator of cellular growth. (© 2024 Wiley Periodicals LLC.) |
| Databáze: | MEDLINE |
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