T Busa1, M Milh2, N Degardin3, N Girard4, S Sigaudy5, M Longy6, S Olshchwang7, H Sobol7, B Chabrol2, N Philip5. 1. Unité de génétique clinique, APHM, CHU Timone-Enfants, France. Electronic address: tiffany.busa@ap-hm.fr. 2. Service de neurologie pédiatrique, APHM, CHU Timone-Enfants, France. 3. Service de chirurgie plastique pédiatrique, APHM, CHU Timone-Enfants, France. 4. Service de neuroradiologie diagnostique et interventionnelle, APHM, CHU Timone, France. 5. Unité de génétique clinique, APHM, CHU Timone-Enfants, France. 6. Laboratoire de génétique moléculaire, Institut Bergonié, France. 7. Laboratoire de génétique moléculaire, Institut Paoli Calmette, France.
Abstract
BACKGROUND: PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. Bannayan-Riley-Ruvalcaba syndrome is considered as the pediatric form of PHTS. More recently, children presenting autism spectrum disorders with macrocephaly (ASD-M) have been reported. METHODS: We report clinical data from seven patients diagnosed in childhood with a PTEN germline mutation, excluding cases of familial Cowden syndrome. RESULTS: This study underlines the variability of phenotype associated with PTEN mutations diagnosed at pediatric age. Most of the patients did not fulfill usual criteria of Bannayan-Riley-Ruvalcaba syndrome or ASD-M. CONCLUSION: PTEN testing should be considered in any child presenting with severe macrocephaly (>+4SD) and another feature of PHTS.
BACKGROUND:PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. Bannayan-Riley-Ruvalcaba syndrome is considered as the pediatric form of PHTS. More recently, children presenting autism spectrum disorders with macrocephaly (ASD-M) have been reported. METHODS: We report clinical data from seven patients diagnosed in childhood with a PTEN germline mutation, excluding cases of familial Cowden syndrome. RESULTS: This study underlines the variability of phenotype associated with PTEN mutations diagnosed at pediatric age. Most of the patients did not fulfill usual criteria of Bannayan-Riley-Ruvalcaba syndrome or ASD-M. CONCLUSION:PTEN testing should be considered in any child presenting with severe macrocephaly (>+4SD) and another feature of PHTS.
Authors: Radhika Dhamija; Steven M Weindling; Alyx B Porter; Leland S Hu; Christopher P Wood; Joseph M Hoxworth Journal: Neurol Clin Pract Date: 2018-06
Authors: Holly A F Stessman; Bo Xiong; Bradley P Coe; Tianyun Wang; Kendra Hoekzema; Michaela Fenckova; Malin Kvarnung; Jennifer Gerdts; Sandy Trinh; Nele Cosemans; Laura Vives; Janice Lin; Tychele N Turner; Gijs Santen; Claudia Ruivenkamp; Marjolein Kriek; Arie van Haeringen; Emmelien Aten; Kathryn Friend; Jan Liebelt; Christopher Barnett; Eric Haan; Marie Shaw; Jozef Gecz; Britt-Marie Anderlid; Ann Nordgren; Anna Lindstrand; Charles Schwartz; R Frank Kooy; Geert Vandeweyer; Celine Helsmoortel; Corrado Romano; Antonino Alberti; Mirella Vinci; Emanuela Avola; Stefania Giusto; Eric Courchesne; Tiziano Pramparo; Karen Pierce; Srinivasa Nalabolu; David G Amaral; Ingrid E Scheffer; Martin B Delatycki; Paul J Lockhart; Fereydoun Hormozdiari; Benjamin Harich; Anna Castells-Nobau; Kun Xia; Hilde Peeters; Magnus Nordenskjöld; Annette Schenck; Raphael A Bernier; Evan E Eichler Journal: Nat Genet Date: 2017-02-13 Impact factor: 38.330