Literature DB >> 25454926

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

Toshiki Takenouchi1, Yu Yamaguchi1, Akiko Tanikawa2, Rika Kosaki3, Hideyuki Okano4, Kenjiro Kosaki5.   

Abstract

Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.
Copyright © 2015 Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 25454926     DOI： 10.1016/j.jpeds.2014.10.015

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  28 in total

1.  A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Authors:  Jennifer J Johnston; Monica Y Sanchez-Contreras; Kim M Keppler-Noreuil; Julie Sapp; Molly Crenshaw; NiCole A Finch; Valerie Cormier-Daire; Rosa Rademakers; Virginia P Sybert; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2015-08-13       Impact factor: 11.025

2.  Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Authors:  Eliana Marisa Ramos; Miryam Carecchio; Roberta Lemos; Joana Ferreira; Andrea Legati; Renee Louise Sears; Sandy Chan Hsu; Celeste Panteghini; Luca Magistrelli; Ettore Salsano; Silvia Esposito; Franco Taroni; Anne-Claire Richard; Christine Tranchant; Mathieu Anheim; Xavier Ayrignac; Cyril Goizet; Marie Vidailhet; David Maltete; David Wallon; Thierry Frebourg; Lylyan Pimentel; Daniel H Geschwind; Olivier Vanakker; Douglas Galasko; Brent L Fogel; A Micheil Innes; Alison Ross; William B Dobyns; Diana Alcantara; Mark O'Driscoll; Didier Hannequin; Dominique Campion; João R Oliveira; Barbara Garavaglia; Giovanni Coppola; Gaël Nicolas
Journal:  Eur J Hum Genet       Date:  2018-06-28       Impact factor: 4.246

3.  Pericyte degeneration causes white matter dysfunction in the mouse central nervous system.

Authors:  Axel Montagne; Angeliki M Nikolakopoulou; Zhen Zhao; Abhay P Sagare; Gabriel Si; Divna Lazic; Samuel R Barnes; Madelaine Daianu; Anita Ramanathan; Ariel Go; Erica J Lawson; Yaoming Wang; William J Mack; Paul M Thompson; Julie A Schneider; Jobin Varkey; Ralf Langen; Eric Mullins; Russell E Jacobs; Berislav V Zlokovic
Journal:  Nat Med       Date:  2018-02-05       Impact factor: 53.440

4.  A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.

Authors:  Cecilie Bredrup; Tomasz Stokowy; Julie McGaughran; Samuel Lee; Dipak Sapkota; Ileana Cristea; Linda Xu; Kåre Steinar Tveit; Gunnar Høvding; Vidar Martin Steen; Eyvind Rødahl; Ove Bruland; Gunnar Houge
Journal:  Eur J Hum Genet       Date:  2018-12-20       Impact factor: 4.246

Review 5.  A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Authors:  Benjamin Kamien; Anne Ronan; Gemma Poke; Ingrid Sinnerbrink; Gareth Baynam; Michelle Ward; William T Gibson; Tracy Dudding-Byth; Rodney J Scott
Journal:  Mol Syndromol       Date:  2018-01-25

Review 6.  PDGF receptor mutations in human diseases.

Authors:  Emilie Guérit; Florence Arts; Guillaume Dachy; Boutaina Boulouadnine; Jean-Baptiste Demoulin
Journal:  Cell Mol Life Sci       Date:  2021-01-15       Impact factor: 9.261

7.  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Authors:  Norine Voisin; Rhonda E Schnur; Sofia Douzgou; Susan M Hiatt; Cecilie F Rustad; Natasha J Brown; Dawn L Earl; Boris Keren; Olga Levchenko; Sinje Geuer; Sarah Verheyen; Diana Johnson; Yuri A Zarate; Miroslava Hančárová; David J Amor; E Martina Bebin; Jasmin Blatterer; Alfredo Brusco; Gerarda Cappuccio; Joel Charrow; Nicolas Chatron; Gregory M Cooper; Thomas Courtin; Elena Dadali; Julien Delafontaine; Ennio Del Giudice; Martine Doco; Ganka Douglas; Astrid Eisenkölbl; Tara Funari; Giuliana Giannuzzi; Ursula Gruber-Sedlmayr; Nicolas Guex; Delphine Heron; Øystein L Holla; Anna C E Hurst; Jane Juusola; David Kronn; Alexander Lavrov; Crystle Lee; Séverine Lorrain; Else Merckoll; Anna Mikhaleva; Jennifer Norman; Sylvain Pradervand; Darina Prchalová; Lindsay Rhodes; Victoria R Sanders; Zdeněk Sedláček; Heidelis A Seebacher; Elizabeth A Sellars; Fabio Sirchia; Toshiki Takenouchi; Akemi J Tanaka; Heidi Taska-Tench; Elin Tønne; Kristian Tveten; Giuseppina Vitiello; Markéta Vlčková; Tomoko Uehara; Caroline Nava; Binnaz Yalcin; Kenjiro Kosaki; Dian Donnai; Stefan Mundlos; Nicola Brunetti-Pierri; Wendy K Chung; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2021-05-06       Impact factor: 11.025

8.  PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

Authors:  F A Arts; D Chand; C Pecquet; A I Velghe; S Constantinescu; B Hallberg; J-B Demoulin
Journal:  Oncogene       Date:  2015-10-12       Impact factor: 9.867

9.  De novo NSF mutations cause early infantile epileptic encephalopathy.

Authors:  Hisato Suzuki; Takeshi Yoshida; Naoya Morisada; Tomoko Uehara; Kenjiro Kosaki; Katsunori Sato; Kohei Matsubara; Toshiyuki Takano-Shimizu; Toshiki Takenouchi
Journal:  Ann Clin Transl Neurol       Date:  2019-11-01       Impact factor: 4.511

10.  A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.

Authors:  Dinel Pond; Florence A Arts; Nancy J Mendelsohn; Jean-Baptiste Demoulin; Gunter Scharer; Yoav Messinger
Journal:  Genet Med       Date:  2017-07-20       Impact factor: 8.822
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