New Disease-causing UBE3A Variant Identified in 6 Members of Family

New Disease-causing UBE3A Variant Identified in 6 Members of Family

325268

New Disease-causing UBE3A Variant Identified in 6 Members of Family

A previously unreported variant in the UBE3A gene caused an inherited form of Angelman syndrome in six members of a Chinese family, a study reports. The finding expands the genetic spectrum of Angelman syndrome and supports genetic counseling for those affected, its researchers said. The study, “A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay,” was published in the journal Molecular Genetics & Genomic Medicine. Recommended Reading January 12,…

You must be logged in to read/download the full post.