Literature DB >> 24665065

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.

Maria Rasmussen1, Lone Sunde, Karen Petra Weigert, Pauline Wilhemina Bogaard, Dorte L Lildballe.   

Abstract

Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  CLOVES; PIK3CA; fibroadipose hyperplasia; overgrowth

Mesh：

Substances：

Year:  2014        PMID： 24665065     DOI： 10.1002/ajmg.a.36454

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  7 in total

Review 1.  Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Authors:  Neera Nathan; Kim M Keppler-Noreuil; Leslie G Biesecker; Joel Moss; Thomas N Darling
Journal:  Dermatol Clin       Date:  2017-01       Impact factor: 3.478

2.  Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities.

Authors:  Wen Tian; Liying Sun; Qi Zhang; Junhui Zhao; Yang Guo; Wenyao Zhong; Liu Liu; Katia Meirelles; Sha Tang; Jing Zhang; Yingzhao Huang; Yuehan Yin; Nan Zhang; Zongxuan Zhao; Qingyang Li; Nan Wu; Ping Fang; Fengqi Chang; Zhihong Wu
Journal:  Mol Genet Genomics       Date:  2022-02-05       Impact factor: 3.291

3.  Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)-A Case Series.

Authors:  Lydia Mathew; Renu George; Sniya Sudhakar; Shyamkumar N Keshava; N A Fouzia
Journal:  Indian Dermatol Online J       Date:  2020-09-19

Review 4.  Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Authors:  Karen W Gripp; Laura Baker; Vinay Kandula; Katrina Conard; Mena Scavina; Joseph A Napoli; Gregory C Griffin; Mihir Thacker; Rachel G Knox; Graeme R Clark; Victoria E R Parker; Robert Semple; Ghayda Mirzaa; Kim M Keppler-Noreuil
Journal:  Am J Med Genet A       Date:  2016-05-18       Impact factor: 2.802

5.  Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.

Authors:  Mohammad M Al-Qattan; Ali Hadadi; Abdullah M Al-Thunayan; Ahmed A Eldali; Mohammed A AlBalwi
Journal:  BMC Med Genet       Date:  2018-09-04       Impact factor: 2.103

6.  Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Authors:  Sofia Frisk; Fulya Taylan; Izabela Blaszczyk; Inger Nennesmo; Göran Annerén; Bettina Herm; Eva-Lena Stattin; Vasilios Zachariadis; Anna Lindstrand; Bianca Tesi; Tobias Laurell; Ann Nordgren
Journal:  Clin Genet       Date:  2019-05-09       Impact factor: 4.438

7.  Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Authors:  Sarah M Leiter; Victoria E R Parker; Alena Welters; Rachel Knox; Nuno Rocha; Graeme Clark; Felicity Payne; Luca Lotta; Julie Harris; Julio Guerrero-Fernández; Isabel González-Casado; Sixto García-Miñaur; Gema Gordo; Nick Wareham; Víctor Martínez-Glez; Michael Allison; Stephen O'Rahilly; Inês Barroso; Thomas Meissner; Susan Davies; Khalid Hussain; Karen Temple; Ana-Coral Barreda-Bonis; Sebastian Kummer; Robert K Semple
Journal:  Eur J Endocrinol       Date:  2017-05-31       Impact factor: 6.664
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.