Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

American Journal of Medical Genetics, Part A

Volumn 164, Issue 9, 2014, Pages 2360-2364

  Cohen, Ana S A ^a,b   Townsend, Katelin N ^a,b   Xiang, Qing San ^b   Attariwala, Raj ^c   Borchers, Christof ^d   Senger, Christof ^b   Picker, Wayne ^c   Levi, Jasna ^a   Yewchuk, Lila ^b   Tan, Joelle ^a,b   Eydoux, Patrice ^b   Lum, Amy ^e   Yong, Siu Li ^a   Mckinnon, Margaret L ^a   Lear, Scott A ^f   Everett, Robert ^b   Jones, Steven J M ^a,e,f   Yip, Stephen ^e   Gibson, William T ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

^c AIM Medical Imaging   (Canada)

^d UNIVERSITY OF VICTORIA   (Canada)

^e BRITISH COLUMBIA CANCER AGENCY   (Canada)

^f SIMON FRASER UNIVERSITY   (Canada)

Author keywords

Fibroadipose hyperplasia; Mosaicism; PIK3CA; Segmental overgrowth

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BUTTOCK; CASE REPORT; CHILD; COPY NUMBER VARIATION; FEMALE; GENE; GLUTEUS MAXIMUS MUSCLE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; LIPOMATOSIS; MESENTERIC LIPOMATOSIS; MICROARRAY ANALYSIS; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PIK3CA GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SOMATIC MOSAICISM; SOMATIC MUTATION; TOE MALFORMATION; ADIPOSE TISSUE; ENZYMOLOGY; GENETICS; INFANT; MESENTERY; MUTATION; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN;

ADIPOSE TISSUE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LIPOMATOSIS; MESENTERY; MOSAICISM; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84905906618     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36622     Document Type: Article

References (17)

1. Alomari AI, Burrows PE, Lee EY, Hedequist DJ, Mulliken JB, Fishman SJ. 2010. CLOVES syndrome with thoracic and central phlebectasia: Increased risk of pulmonary embolism. J Thorac Cardiovasc Surg 140:459-463.
2. Blum WF, Englaro P, Hanitsch S, Juul A, Hertel NT, Müller J, Skakkebaek NE, Heiman ML, Birkett M, Attanasio AM, Kiess W, Rascher W. 1997. Plasma leptin levels in healthy children and adolescents: Dependence on body mass index, body fat mass, gender, pubertal stage, and testosterone. J Clin Endocrinol Metab 82:2904-2910.
3. Cangemi G, Di Iorgi N, Barco S, Reggiardo G, Maghnie M, Melioli G. 2012. Plasma total adiponectin levels in pediatrics: Reference intervals calculated as a continuous variable of age. Clin Biochem 45:1703-1705.
4. Hedbacker K, Birsoy K, Wysocki RW, Asilmaz E, Ahima RS, Farooqi IS, Friedman JM. 2010. Antidiabetic effects of IGFBP2, a leptin-regulated gene. Cell Metab 11:11-22.
5. Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HPW, Warman ML. 2012. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 90:1108-1115.
6. Kuzyk MA, Ohlund LB, Elliott MH, Smith D, Qian H, Delaney A, Hunter CL, Borchers CH. 2009. A comparison of MS/MS-based, stable-isotope-labeled, quantitation performance on ESI-quadrupole TOF and MALDI-TOF/TOF mass spectrometers. Proteomics 9:3328-3340.
7. Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. 2012. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 44:941-945.
8. Lindhurst MJ, Parker VER, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJO, Barroso I, Biesecker LG, Semple RK. 2012. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet 44:928-933.
9. Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL. 2014. Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing. Am J Med Genet A 164:1318-1321.
10. Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M. 2013. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet 22:444-451.
11. Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GMS, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB, 2012. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44:934-940.
12. Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE. 2004. High frequency of mutations of the PIK3CA gene in human cancers. Science 304:554.
13. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. 2007. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A 143A:2944-2958.
14. Sjöholm K, Palming J, Olofsson LE, Gummesson A, Svensson PA, Lystig TC, Jennische E, Brandberg J, Torgerson JS, Carlsson B, Carlsson LM. 2005. A microarray search for genes predominantly expressed in human omental adipocytes: Adipose tissue as a major production site of serum amyloid A. J Clin Endocrinol Metab 90:2233-2239.
15. Terauchi Y, Tsuji Y, Satoh S, Minoura H, Murakami K, Okuno A, Inukai K, Asano T, Kaburagi Y, Ueki K, Nakajima H, Hanafusa T, Matsuzawa Y, Sekihara H, Yin Y, Barrett JC, Oda H, Ishikawa T, Akanuma Y, Komuro I, Suzuki M, Yamamura K, Kodama T, Suzuki H, Yamamura K, Kodama T, Suzuki H, Koyasu S, Aizawa S, Tobe K, Fukui Y, Yazaki Y, Kadowaki T. 1999. Increased insulin sensitivity and hypoglycaemia in mice lacking the p85 alpha subunit of phosphoinositide 3-kinase. Nat Genet 21:230-235.
16. Wong JT, Kim PT, Peacock JW, Yau TY, Mui AL, Chung SW, Sossi V, Doudet D, Green D, Ruth TJ, Parsons R, Verchere CB, Ong CJ. 2007. Pten (phosphatase and tensin homologue gene) haploinsufficiency promotes insulin hypersensitivity. Diabetologia 50:395-403.
17. Yang MM, Singhal A, Rassekh SR, Yip S, Eydoux P, Dunham C. 2012. Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: An unusual case in an infant. J Neurosurg Pediatr 9:517-523.