What is White Sutton Syndrome?
White Sutton Syndrome (WHSUS) is a rare condition which causes intellectual disability, delayed development, autism, trouble communication, motor difficulties, and social difficulties. Children diagnosed with this disorder may also experience difficulties with their vision and hearing, gastrointestinal complications, hyperactivity, and problems sleeping. WHSUS is typically a “de novo” genetic change, meaning it is most often a spontaneous change, rather than an inherited one. WHSUS may also be referred to as a POGZ mutation due to the location of the de novo change on the POGZ gene.
When was it discovered?
Doctors Janson White, Ph.D. and V. Reid Sutton, M.D. detailed this condition in a paper entitled "POGZ truncating alleles cause syndromic intellectual disability"[6] in January of 2016. In June 2016, the Online Mendelian Inheritance in Man (OMIM) designated this as “White–Sutton syndrome”.
Maddie is part of this paper (example #5) which can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702300/
For additional information and resources please see below.
- US National Library of Medicine – White Sutton Syndrome
https://medlineplus.gov/genetics/condition/white-sutton-syndrome/ - White Sutton Syndrome Foundation
https://whitesutton.org/