Literature DB >> 34247275

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Sarut Chaisrisawadisuk1,2, Ajay Taranath3, Jonathan Azzopardi4, Mark H Moore4.   

Abstract

Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Arg524Trp; Craniosynostosis; TRAF7 mutation; c.1570C>T

Mesh：

Substances：

Year:  2021        PMID： 34247275     DOI： 10.1007/s00381-021-05285-7

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


  10 in total

Review 1.  The seventh ring: exploring TRAF7 functions.

Authors:  Tiziana Zotti; Pasquale Vito; Romania Stilo
Journal:  J Cell Physiol       Date:  2012-03       Impact factor: 6.384

2.  De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Authors:  Mari J Tokita; Chun-An Chen; David Chitayat; Ellen Macnamara; Jill A Rosenfeld; Neil Hanchard; Andrea M Lewis; Chester W Brown; Ronit Marom; Yunru Shao; Danica Novacic; Lynne Wolfe; Colleen Wahl; Cynthia J Tifft; Camilo Toro; Jonathan A Bernstein; Caitlin L Hale; Julia Silver; Louanne Hudgins; Amitha Ananth; Andrea Hanson-Kahn; Shirley Shuster; Pilar L Magoulas; Vipulkumar N Patel; Wenmiao Zhu; Stella M Chen; Yanjun Jiang; Pengfei Liu; Christine M Eng; Dominyka Batkovskyte; Alberto di Ronza; Marco Sardiello; Brendan H Lee; Christian P Schaaf; Yaping Yang; Xia Wang
Journal:  Am J Hum Genet       Date:  2018-06-28       Impact factor: 11.025

Review 3.  Genetic Causes of Craniosynostosis: An Update.

Authors:  Jacqueline A C Goos; Irene M J Mathijssen
Journal:  Mol Syndromol       Date:  2018-08-15

Review 4.  Clinical genetics of craniosynostosis.

Authors:  Andrew O M Wilkie; David Johnson; Steven A Wall
Journal:  Curr Opin Pediatr       Date:  2017-12       Impact factor: 2.856

Review 5.  Syndromic Craniosynostosis.

Authors:  Rajendra Sawh-Martinez; Derek M Steinbacher
Journal:  Clin Plast Surg       Date:  2019-04       Impact factor: 2.017

Review 6.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802

7.  The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.

Authors:  Won-Joon Yoon; Young-Dan Cho; Kwang-Hwi Cho; Kyung-Mi Woo; Jeong-Hwa Baek; Je-Yoel Cho; Gwan-Shik Kim; Hyun-Mo Ryoo
Journal:  J Biol Chem       Date:  2008-09-10       Impact factor: 5.157

8.  A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.

Authors:  Tewis Bouwmeester; Angela Bauch; Heinz Ruffner; Pierre-Olivier Angrand; Giovanna Bergamini; Karen Croughton; Cristina Cruciat; Dirk Eberhard; Julien Gagneur; Sonja Ghidelli; Carsten Hopf; Bettina Huhse; Raffaella Mangano; Anne-Marie Michon; Markus Schirle; Judith Schlegl; Markus Schwab; Martin A Stein; Andreas Bauer; Georg Casari; Gerard Drewes; Anne-Claude Gavin; David B Jackson; Gerard Joberty; Gitte Neubauer; Jens Rick; Bernhard Kuster; Giulio Superti-Furga
Journal:  Nat Cell Biol       Date:  2004-01-25       Impact factor: 28.824

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:  Roser Urreizti; Christopher T Gordon; Laura Castilla-Vallmanya; Kaja K Selmer; Clémantine Dimartino; Raquel Rabionet; Bernardo Blanco-Sánchez; Sandra Yang; Margot R F Reijnders; Antonie J van Essen; Myriam Oufadem; Magnus D Vigeland; Barbro Stadheim; Gunnar Houge; Helen Cox; Helen Kingston; Jill Clayton-Smith; Jeffrey W Innis; Maria Iascone; Anna Cereda; Sara Gabbiadini; Wendy K Chung; Victoria Sanders; Joel Charrow; Emily Bryant; John Millichap; Antonio Vitobello; Christel Thauvin; Frederic Tran Mau-Them; Laurence Faivre; Gaetan Lesca; Audrey Labalme; Christelle Rougeot; Nicolas Chatron; Damien Sanlaville; Katherine M Christensen; Amelia Kirby; Raymond Lewandowski; Rachel Gannaway; Maha Aly; Anna Lehman; Lorne Clarke; Luitgard Graul-Neumann; Christiane Zweier; Davor Lessel; Bernarda Lozic; Ingvild Aukrust; Ryan Peretz; Robert Stratton; Thomas Smol; Anne Dieux-Coëslier; Joanna Meira; Elizabeth Wohler; Nara Sobreira; Erin M Beaver; Jennifer Heeley; Lauren C Briere; Frances A High; David A Sweetser; Melissa A Walker; Catherine E Keegan; Parul Jayakar; Marwan Shinawi; Wilhelmina S Kerstjens-Frederikse; Dawn L Earl; Victoria M Siu; Emma Reesor; Tony Yao; Robert A Hegele; Olena M Vaske; Shannon Rego; Kevin A Shapiro; Brian Wong; Michael J Gambello; Marie McDonald; Danielle Karlowicz; Roberto Colombo; Alessandro Serretti; Lynn Pais; Anne O'Donnell-Luria; Alison Wray; Simon Sadedin; Belinda Chong; Tiong Y Tan; John Christodoulou; Susan M White; Anne Slavotinek; Deborah Barbouth; Dayna Morel Swols; Mélanie Parisot; Christine Bole-Feysot; Patrick Nitschké; Véronique Pingault; Arnold Munnich; Megan T Cho; Valérie Cormier-Daire; Susanna Balcells; Stanislas Lyonnet; Daniel Grinberg; Jeanne Amiel
Journal:  Genet Med       Date:  2020-05-07       Impact factor: 8.822
  10 in total

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