QRICH1 related disorders

Targeted gene(s)/phenotype under study : QRICH1

Abstract :

De novo pathogenic variants of QRICH1 (Glutamine-rich protein 1, OMIM #617387) has recently been described in five patients (Ververi et al. 2018; Lui et al. 2019). The variants have been associated with developmental delay and intellectual disability, mild facial dysmorphism and chondrodysplasia in some cases. Through Gene Matcher (Genematcher.org) we have now identified 19 further patients with QRICH1-variants. Currently, we are in the process of defining the phenotype-genotype spectrum of QRICH1-related disorders in the patient cohort (a total of 24 including the published cases) and preparing a manuscript. We welcome further cases to this study to reach a better understanding of this rare disorder. We aim to close inclusion of further cases 15th July 2020.

Coordinating clinician/researcher: Zeynep Tümer

Institution :

Kennedy Center,

Department of Clinical Genetics,

Copenhagen University Hospital, Rigshospitalet,

Copenhagen, Denmark

Contact : tumer@regionh.dk

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : N
  • Resampling of patients : N
  • Linked to a translational/basic research project?