[Clinical utility of Genome Boards for patients with complex genetic diseases].

Genetic analysis using high-throughput sequencing is a powerful tool for patients with rare diseases. However, biological and clinical interpretation thereof is difficult, especially when the clinical picture is complex. Multidisciplinary Genome Boards bring together the relevant medical specialties around the patient's medical and genetic file, to optimize the correlation between phenotype and genotype.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Purpose: Hearing loss is characterized by an extensive genetic heterogeneity and remains a common disorder in children. Molecular diagnosis is of particular benefit in children, and permits the early identification of clinically-unrecognized hearing loss syndromes, which permits effective clinical management and follow-up, including genetic counselling.

Methods: We performed whole-exome sequencing with the analysis of a panel of 189 genes associated with hearing loss in a prospective cohort of 61 children and 9 adults presenting mainly with isolated hearing loss.

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Arthrogryposis describes the presence of multiple joint-contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative transmembrane protein of the ER-Golgi interface.

Mental health and experience of being bullied in 12-year-old children with overweight and obesity.

Aim: The aim was to study the association between weight, mental health and experience of being bullied in 12-year-old children. Additional aim was to investigate the impact of childhood psychosocial risk factors for overweight and obesity at age 12.

Methods: Study participants were members of a Swedish prospective cohort study.