New Rare Disease Uncovered With Own Facial Features, Cardiac Defects and Developmental Delay

TRAF7 Syndrome

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As part of the research study, the authors formed the profile of a robotic picture of the clients to assist pediatricians recognize the afflicted individuals. Credit: University of Barcelona-IBUB-IRSJD-CIBERER

TRAF7 syndrome: The initially 45 clients

An global multicenter research study explains an unusual illness defined by a series of identifiable facial functions, heart problems and intellectual impairment, which they propose to call as TRAF7 syndrome  — according to the name of the gene that triggers this pathology.

The research study, released in the journal Genetics in Medicine, is led by a group of the Faculty of Biology of the University of Barcelona and the Institute of Biomedicine of the University of Barcelona (IBUB), the Rare Diseases Networking Biomedical Research Centre (CIBERER) and the Research Institute Sant Joan de Déu (IRSJD), in cooperation with professionals from the French Institute of Health and Medical Research (INSERM).


From delegated right, Laura Castilla-Vallmanya, Susanna Balcells and Daniel Grinberg (very first line), with Raquel Rabionet and Roser Urreizti (2nd line), professionals from the UB, the IBUB, the CIBERER and the IRSJD. Credit: University of Barcelona/IBUB/ IRSJD/ CIBERER

In this research study, the professionals recognized forty-five clients — who were not identified previously — with whom they might acquire understanding on this brand-new syndrome, up until now specified with an only previous post based upon the research study of 7 individuals.

With the analysis of brand-new clients, the authors explained the scientific image connected with the TRAF7 syndrome, included by intellectual impairment, motor hold-up, particular facial functions, hearing loss, a heart hereditary malformation — patent ductus arteriosus — and skeletal problems in fingers, neck, and chest.

Apart from specifying the TRAF7 syndrome-associated phenotype spectrum, the authors of the brand-new research study evaluated the transcriptome — international expression analysis of all genes in a cell — of fibroblasts — the most typical kind of cell in the connective tissue — in a number of clients and controls. Therefore, it is possible to provide a description on the transformed paths in case the gene mutates and the illness comes from.

Among other functions that can add to recognize the afflicted clients are likewise the blepharophimosis (eyelids are horizontally reduced), brief neck with back discrepancies, pectus carinatum (malformation in the chest where the chest wall is kept in external position), and macrocephaly.

Last, the group utilized a computer system application — based upon pictures of a number of clients — to get a robotic picture of the syndrome which might be of interest for the pediatricians who need to deal with cases of this illness.


Reference: “Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7” by Laura Castilla-Vallmanya MSc, Kaja K. Selmer MD, PhD, Clémantine Dimartino MSc, Raquel Rabionet PhD, Bernardo Blanco-Sánchez PhD, Sandra Yang MS, CGC, Margot R. F. Reijnders MD, PhD, Antonie J. van Essen MD, PhD, Myriam Oufadem MSc, Magnus D. Vigeland PhD, Barbro Stadheim MD, Gunnar Houge MD, PhD, Helen Cox MD, Helen Kingston MD, Jill Clayton-Smith MD, Jeffrey W. Innis MD, PhD, Maria Iascone PhD, Anna Cereda MD, Sara Gabbiadini MD, Wendy K. Chung MD, PhD, Victoria Sanders MS, CGC, Joel Charrow MD, Emily Bryant MS, CGC, John Millichap MD, Antonio Vitobello PhD, Christel Thauvin MD, PhD, Frederic Tran Mau-Them MD, Laurence Faivre MD, PhD, Gaetan Lesca MD, Audrey Labalme MSc, Christelle Rougeot MD, Nicolas Chatron MD, Damien Sanlaville MD, PhD, Katherine M. Christensen MS, CGC, Amelia Kirby MD, Raymond Lewandowski MD, Rachel Gannaway MS, CGC, Maha Aly MSc, Anna Lehman MD, Lorne Clarke MD, Luitgard Graul-Neumann MD, Christiane Zweier MD, PhD, Davor Lessel MD, Bernarda Lozic MD, PhD, Ingvild Aukrust PhD, Ryan Peretz MD, Robert Stratton MD, Thomas Smol MD, Anne Dieux-Coëslier MD, Joanna Meira MD, MSc, Elizabeth Wohler MS, Nara Sobreira MD, PhD, Erin M. Beaver MS, CGC, Jennifer Heeley MD, Lauren C. Briere MS, CGC, Frances A. High MD, PhD, David A. Sweetser MD, PhD, Melissa A. Walker MD, PhD, Catherine E. Keegan MD, PhD, Parul Jayakar MD, Marwan Shinawi MD, Wilhelmina S. Kerstjens-Frederikse MD, PhD, Dawn L. Earl ARNP, Victoria M. Siu MD, Emma Reesor BASc, Tony Yao BMSc, Robert A. Hegele MD, Olena M. Vaske PhD, Shannon Rego MS, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kevin A. Shapiro MD, PhD, Brian Wong MD, Michael J. Gambello MD, PhD, Marie McDonald MD, Danielle Karlowicz CGC, Roberto Colombo PhD, Alessandro Serretti MD, Lynn Pais MS, Anne O’Donnell-Luria MD, PhD, Alison Wray MD, Simon Sadedin PhD, Belinda Chong PhD, Tiong Y. Tan MBBS, PhD, John Christodoulou MD, PhD, Susan M. White MD, Anne Slavotinek MBBS, PhD, Deborah Barbouth MD, Dayna Morel Swols MS, CGC, Mélanie Parisot BTS, Christine Bole-Feysot PhD, Patrick Nitschké PhD, Véronique Pingault PhD, Arnold Munnich MD, PhD, Megan T. Cho MSc, CGC, Valérie Cormier-Daire MD, PhD, Susanna Balcells PhD, Stanislas Lyonnet MD, PhD, Daniel Grinberg PhD, Jeanne Amiel MD, PhD, Roser Urreizti PhD and Christopher T. Gordon PhD, 7 May 2020, Genetics in Medicine.
DOI: 10.1038/s41436-020-0792-7

Laura Castilla Vallmanya, scientist of the UB, IBUB, CIBERER and IRSJD, is the very first signer of the research study, collaborated by Roser Urreizti, likewise member of the pointed out organizations, and Christopher T. Gordon, from INSERM and the Sorbonne University of Paris. Other individuals in the research study are professionals from proving ground in Norway, United States, the Netherlands, United Kingdom, Italy, Canada, Germany, Croatia, Brazil and Australia.

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