Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed.

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Background-Psychiatric disorders are profoundly stigmatized conditions. Many groups of healthcare professionals harbor negative attitudes towards affected individuals, which may interfere with the healthcare relationship, but genetic counselors' attitudes towards individuals with psychiatric disorders have not been investigated. Thus, we conducted an exploratory study to assess genetic counselors' desire for social distance from individuals with schizophrenia, and the degree to which stereotypes about people with schizophrenia were endorsed.Methods-Members of the National Society of Genetic Counselors were invited to complete an online survey, which included scales measuring: desire for social distance from individuals with schizophrenia, and endorsement of positive and negative stereotypes about these individuals.Results-In total, 142 surveys were completed. Genetic counselors expressed greater desire for social distance from an individual with schizophrenia in more intimate proposed relationship scenarios, and felt negative stereotypes about affected individuals were more typifying than positive stereotypes. Experience with psychiatric disorders did not significantly affect desired social distance or stereotypical attitudes.Conclusions-Genetic counselors express some negative attitudes toward individuals with schizophrenia, which may impede the counselor/client relationship. Future research in this area is suggested, and efforts should be made to promote positive attitudes, which would improve the ability of genetic counselors to provide optimal service for individuals with schizophrenia and their families.