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Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders. Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms. Six affected individuals had mutations that are predicted to truncate the MED13 protein, six had missense mutations, and one had an in-frame-deletion of one amino acid. Out of the seven non-truncating mutations, six clustered in two specific locations of the MED13 protein: an N-terminal and C-terminal region. The four N-terminal clustering mutations affect two adjacent amino acids that are known to be involved in MED13 ubiquitination and degradation, p.Thr326 and p.Pro327. MED13 is a component of the CDK8-kinase module that can reversibly bind Mediator, a multi-protein complex that is required for Polymerase II transcription initiation. Mutations in several other genes encoding subunits of Mediator have been previously shown to associate with DD/ID, including MED13L, a paralog of MED13. Thus, our findings add MED13 to the group of CDK8-kinase module-associated disease genes.

Clinical supervision is an essential element in training genetic counselors. Although live supervision has been identified as the most common supervision technique utilized in genetic counseling, there is limited information on factors influencing its use as well as the use of other techniques. The purpose of this study was to identify barriers supervisors face when implementing supervision techniques. All participants ( N  = 141) reported utilizing co-counseling. This was most used with novice students (96.1 %) and intermediate students (93.7 %). Other commonly used techniques included live supervision where the supervisor is silent during session (98.6 %) which was used most frequently with advanced students (94.0 %), and student self-report (64.7 %) used most often with advanced students (61.2 %). Though no barrier to these commonly used techniques was identified by a majority of participants, the most frequently reported barriers included time and concern about patient’s welfare. The remaining supervision techniques (live remote observation, video, and audio recording) were each used by less than 10 % of participants. Barriers that significantly influenced use of these techniques included lack of facilities/equipment and concern about patient reactions to technique. Understanding barriers to implementation of supervisory techniques may allow students to be efficiently trained in the future by reducing supervisor burnout and increasing the diversity of techniques used.