RARE Daily

IBUB Led Study Identifies New Rare Disease

May 19, 2020

Rare Daily Staff

An international multicenter study has identified a new rare disease dubbed TRAF7 syndrome, a condition characterized by a series of recognizable facial features, cardiac defects, and intellectual disability.

The syndrome is named for the gene that causes the condition.

A team of scientists at 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 collaboration with experts from the French Institute of Health and Medical Research (INSERM), reported their finding in the journal Genetics in Medicine.

In this research, the experts identified forty-five previously undiagnosed patients with whom they could gain knowledge on this new syndrome. It follows a previous article based on the study of seven people with the syndrome.

The analysis of new patients allowed the authors to describe a clinical picture associated with the TRAF7 syndrome. It includes intellectual disability, motor delay, specific facial features, hearing loss, a heart congenital malformation, and skeletal defects in fingers, the neck, and chest.

In addition to describing the spectrum of physical manifestations of TRAF7 syndrome, the authors of the study analyzed the transcriptome in several patients and controls.

Among other features that can contribute to identification of the affected, patients also have eyelids that are horizontally shortened, a short neck with back deviations, malformation in the chest where the chest wall is held in outward position, and an enlarged head.

The team also used a computer application based on photographs of several patients to create a computer-generated portrait of the syndrome, which could be of interest for pediatricians who have to work with cases of this disease.

Photo: As part of the study, the authors shaped the profile of a robot portrait of the patients to help pediatricians identify the affected people. Credit: university of barcelona-ibub-irsjd-ciberer

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