Published Studies and Papers
This ultra-rare disorder, caused by variations on the HNRNPH2 gene, was first identified by Drs. Jennifer Bain and Wendy Chung, who published the first paper on the disorder in the American Journal of Human Genetics in September 2016.
View the full study here: “Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females”
Subsequent papers have been published as a result of evaluations conducted during the annual family meetings, as part of the critical Natural History Study.
Other researchers have published studies to expand on Dr. Bain's original publication in 2016 identifying HNRNPH2 genetic variations as pathogenic. Click on the title below to read the full study.
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. This study reports on two siblings, one male and one female, born to a consanguineous couple in India.