Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Purpose: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

Methods: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

Results: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript.

Adverse Events in Genetic Testing: The Fourth Case Series.

Purpose: In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly.

Methods: An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e.

A tailored approach to family-centered genetic counseling for cystic fibrosis newborn screening: the Wisconsin model.

This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques.

Family information service participation increases the rates of mutation testing among members of families with BRCA1/2 mutations.

Some members of hereditary breast-ovarian cancer (HBOC) families may not participate in BRCA testing to determine their mutation status in part because they are unaware of their cancer risk and the availability of BRCA testing. Participation in a family information service (FIS), of which we have provided more than 100 sessions during the past 30 years, has been seen to effectively allow family members to be educated regarding their cancer genetic risk and potential benefits from cancer control measures such as mutation testing. However, the effect of the FIS on the rate of mutation testing has not been studied.