Bannayan-Riley-Ruvalcaba syndrome causes: Difference between revisions
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==Causes== | ==Causes== | ||
'''Genetic Cause''' | '''Genetic Cause''' | ||
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]]. | * Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]].<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref> | ||
* Different types of [[mutations]] occurs in ''[[PTEN (gene)|PTEN]]'' [[gene]] and are as follows'':'' | * Different types of [[mutations]] occurs in ''[[PTEN (gene)|PTEN]]'' [[gene]] and are as follows'':'' | ||
** [[Germline]] intragenic [[mutations]] in ''[[PTEN (gene)|PTEN]]'' [[gene]] | ** [[Germline]] intragenic [[mutations]] in ''[[PTEN (gene)|PTEN]]'' [[gene]] | ||
Latest revision as of 16:12, 28 February 2019
Template:Bannayan-Riley-Ruvalcaba syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene.
Causes
Genetic Cause
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene.[1][2][3][4]
- Different types of mutations occurs in PTEN gene and are as follows:
References
- ↑ Alomari AI (January 2009). "Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome". Clin. Dysmorphol. 18 (1): 1–7. doi:10.1097/MCD.0b013e328317a716. PMID 19011570.
- ↑ Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG (December 2007). "Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients". Am. J. Med. Genet. A. 143A (24): 2944–58. doi:10.1002/ajmg.a.32023. PMID 17963221.
- ↑ Acosta S, Torres V, Paulos M, Cifuentes I (April 2017). "CLOVES Syndrome: Severe Neonatal Presentation". J Clin Diagn Res. 11 (4): TR01–TR03. doi:10.7860/JCDR/2017/23801.9719. PMC 5449880. PMID 28571234.
- ↑ Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung B, Warman ML (May 2018). "Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum". Clin. Genet. 93 (5): 1075–1080. doi:10.1111/cge.13195. PMID 29231959. Vancouver style error: initials (help)