We are excited to announce that researchers at Baylor College of Medicine in Houston, TX, have recently published a new research paper, entitled “Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia-Gibbs syndrome”.
This paper and the kind of research it represents are only possible because of participation in the Xia-Gibbs Patient Registry, led by Dr. Richard Gibbs and Dr. Jianhong Hu, which you can find out more about here. As the Registry grows, we have more and more power to understand XGS.
The article, authored by the following researchers, presents a detailed analysis of clinical data relating to 34 individuals with Xia-Gibbs Syndrome.
Michael M. Khayat
Adam W. Hansen
Hannah L. Johnson
James R. Lupski
Jennifer E. Posey
David R. Murdock
Richard A. Gibbs
This research reveals that whilst the clinical presentation of Xia-Gibbs syndrome is still evolving and shows variability, a core set of five ‘phenotypes’ (or sets of observable characteristics and symptoms) is already emerging. The core phenotypes, which occured in more than 80% of individuals, include: delayed motor milestones, speech delay, low muscle tone, intellectual disability, and hypotonia. An additional 12 features occurred more variably: seizures, scoliosis, sleep apnea, ataxia, nystagmus, autism, dysmorphic features, tracheomalacia, laryngomalacia, short stature, strabismus, and failure to thrive.
The study also showed that the position of the mutation in the AHDC1 gene may impact the likelihood of some clinical features. The mutation position also offers clues to how the altered AHDC1 is distributed in the cell – an important clue to understanding the basic mechanism of XGS.