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Literature DB >> 27617124

Overgrowth Syndromes.

Andrew C Edmondson¹, Jennifer M Kalish¹.

Abstract

Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci.

Entities: Disease

Keywords: Bannayan–Riley–Ruvalcaba; Beckwith–Wiedemann; Malan; Marshall–Smith; PI3K-related; Perlman; Proteus; Simpson–Golabi–Behmel; Sotos; overgrowth syndrome

Year: 2015 PMID： 27617124 PMCID： PMC4918719 DOI： 10.1055/s-0035-1564440

Source DB: PubMed Journal: J Pediatr Genet ISSN： 2146-460X

58 in total

1. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Authors: Dewi Astuti; Mark R Morris; Wendy N Cooper; Raymond H J Staals; Naomi C Wake; Graham A Fews; Harmeet Gill; Dean Gentle; Salwati Shuib; Christopher J Ricketts; Trevor Cole; Anthonie J van Essen; Richard A van Lingen; Giovanni Neri; John M Opitz; Patrick Rump; Irene Stolte-Dijkstra; Ferenc Müller; Ger J M Pruijn; Farida Latif; Eamonn R Maher
Journal: Nat Genet Date: 2012-02-05 Impact factor: 38.330

Review 2. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.

Authors: Charlène E U Oduber; Chantal M A M van der Horst; Raoul C M Hennekam
Journal: Ann Plast Surg Date: 2008-02 Impact factor: 1.539

3. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.

Authors: F Brioude; A Lacoste; I Netchine; M-P Vazquez; F Auber; G Audry; M Gauthier-Villars; L Brugieres; C Gicquel; Y Le Bouc; S Rossignol
Journal: Horm Res Paediatr Date: 2013-12-04 Impact factor: 2.852

Review 4. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Authors: A Slavotinek; L Gaunt; D Donnai
Journal: J Med Genet Date: 1997-10 Impact factor: 6.318

5. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Authors: Kyle C Kurek; Valerie L Luks; Ugur M Ayturk; Ahmad I Alomari; Steven J Fishman; Samantha A Spencer; John B Mulliken; Margot E Bowen; Guilherme L Yamamoto; Harry P W Kozakewich; Matthew L Warman
Journal: Am J Hum Genet Date: 2012-05-31 Impact factor: 11.025

6. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.

Authors: María Berdasco; Santiago Ropero; Fernando Setien; Mario F Fraga; Pablo Lapunzina; Régine Losson; Miguel Alaminos; Nai-Kong Cheung; Nazneen Rahman; Manel Esteller
Journal: Proc Natl Acad Sci U S A Date: 2009-12-14 Impact factor: 11.205

7. Bannayan-Riley-Ruvalcaba syndrome.

Authors: R J Gorlin; M M Cohen; L M Condon; B A Burke
Journal: Am J Med Genet Date: 1992-10-01

Review 8. Molecular findings in Beckwith-Wiedemann syndrome.

Authors: Sanaa Choufani; Cheryl Shuman; Rosanna Weksberg
Journal: Am J Med Genet C Semin Med Genet Date: 2013-04-16 Impact factor: 3.908

9. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Authors: Ghayda M Mirzaa; Jean-Baptiste Rivière; William B Dobyns
Journal: Am J Med Genet C Semin Med Genet Date: 2013-04-16 Impact factor: 3.908

10. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Authors: Ghayda Mirzaa; David A Parry; Andrew E Fry; Kristin A Giamanco; Jeremy Schwartzentruber; Megan Vanstone; Clare V Logan; Nicola Roberts; Colin A Johnson; Shawn Singh; Stanislav S Kholmanskikh; Carissa Adams; Rebecca D Hodge; Robert F Hevner; David T Bonthron; Kees P J Braun; Laurence Faivre; Jean-Baptiste Rivière; Judith St-Onge; Karen W Gripp; Grazia Ms Mancini; Ki Pang; Elizabeth Sweeney; Hilde van Esch; Nienke Verbeek; Dagmar Wieczorek; Michelle Steinraths; Jacek Majewski; Kym M Boycot; Daniela T Pilz; M Elizabeth Ross; William B Dobyns; Eamonn G Sheridan
Journal: Nat Genet Date: 2014-04-06 Impact factor: 38.330

14 in total

1. [Vascular anomalies. Part II: vascular malformations].

Authors: S Mylonas; S Brunkwall; J Brunkwall
Journal: Chirurg Date: 2018-04 Impact factor: 0.955

2. The most important questions in cancer research and clinical oncology-Question 2-5. Obesity-related cancers: more questions than answers.

Authors: Ajit Venniyoor
Journal: Chin J Cancer Date: 2017-01-31

3. A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.

Authors: Gianluigi Laccetta; Francesca Moscuzza; Angela Michelucci; Andrea Guzzetta; Sara Lunardi; Francesca Lorenzoni; Paolo Ghirri
Journal: Front Pediatr Date: 2017-11-07 Impact factor: 3.418

Review 4. PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.

Authors: Maria Chiara De Santis; Valentina Sala; Miriam Martini; Giovanni Battista Ferrero; Emilio Hirsch
Journal: Cancers (Basel) Date: 2017-03-29 Impact factor: 6.639

5. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Authors: Katrina Tatton-Brown; Chey Loveday; Shawn Yost; Matthew Clarke; Emma Ramsay; Anna Zachariou; Anna Elliott; Harriet Wylie; Anna Ardissone; Olaf Rittinger; Fiona Stewart; I Karen Temple; Trevor Cole; Shazia Mahamdallie; Sheila Seal; Elise Ruark; Nazneen Rahman
Journal: Am J Hum Genet Date: 2017-05-04 Impact factor: 11.025

6. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.

Authors: Alice Maguolo; Franco Antoniazzi; Alice Spano; Elena Fiorini; Rossella Gaudino; Margherita Mauro; Gaetano Cantalupo; Paolo Biban; Silvia Maitz; Paolo Cavarzere
Journal: Ital J Pediatr Date: 2018-09-19 Impact factor: 2.638