BBSOAS encompasses a broad range of clinical phenotypes. Functional studies help determine the severity of novel NR2F1 variants. Some genotype-phenotype correlations seem to exist, with missense mutations in the DNA-binding domain causing the most severe phenotypes.Genet Med 18 11, 1143-1150.

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. The frequency of exonic NRXN1 deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%; P = 6.08 × 10(-7) ), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence of NRXN1 deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1.

Genetic counseling is a female-dominated profession, with 96% of counselors self-identifying as female. Research suggests gender diversification benefits healthcare professionals and the populations they serve. Therefore, this study explored how men choose a genetic counseling career, associations between career satisfaction and their career entry dynamics and experience levels, and differences due to experience level in how they decide on this profession. Twenty-five novice, experienced, or seasoned male counselors and 8 male genetic counseling students participated in semi-structured phone interviews. Interpretive content and cross-case analyses of interview data were informed by Simpson's "Seekers, Finders, and Settlers" theory describing career entry dynamics of men in non-traditional (i.e., female-dominated) fields. Results revealed 13 interviewees were Seekers, who initially knew they wanted a career in genetic counseling, actively chose the profession, and were satisfied with their decision. Eleven were Settlers, who had tried different, traditional jobs, with limited satisfaction before actively finding and choosing genetic counseling. Two were Finders, who discovered genetic counseling while in the career decision making process and made a passive choice to pursue it as they had no feasible, satisfactory alternative. Seven men fit a new category, we termed "Stumblers," who were in another career and satisfied, but changed to genetic counseling after happening to hear about it. Prevalent themes pertaining to participants' experiences in the career include desire for a multidisciplinary career; lack of a priori knowledge of genetic counselor roles; late exposure to the profession; and varied perceptions of being in a non-traditional career. There were few differences due to experience level and career satisfaction was high across the sample. Results suggest earlier exposure to the career and availability of detailed descriptions of its multidisciplinary nature may increase the number of males in the profession.

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