Correlation between intellectual disability and cutaneous skin mosaicism

Abstract :

Cutaneous mosaic constitution has been associated with various intellectual disability (ID) phenotypes suggesting a common underlying pathomechanism. The case of ectodermal origin of skin and brain corroborates that a systematic genomic characterization of the skin of these syndromic ID patients could serve as a key to improved understanding of ID pathogenesis. In our DFG-funded project we want to help to clarify these underlying mechanisms by studying patients with ID and cutaneous hyper- and/or hypopigmented skin alterations. In the course of the study, skin biopsies (normally pigmented and hypo-/hyperpigmented skin) of the patients are analysed in comparison with blood of the patients and their parents. In addition to trio based exome sequencing (evaluation low grade mosaicism), methylome and transcriptome analyses, an accurate evaluation of the melanocytes and fibroblasts isolated and cultured from the skin is carried out by means of OMICS analyses. After the genomic characterization of skin and blood of several syndromic ID patients and their parents, we would like to increase the number of patients in order to better delineate the pathogenesis and underlying pathomechanism.

Coordinating clinicians /researchers: 

  • Dagmar Wieczorek
  • Silke Redler
  • Melanie Föhrenbach

Institution :

Institution of Human Genetics

University Clinic


Universitätsstr. 1

40225 Düsseldorf

Contact : 

Specific requirements beyond clinical data and genotype data sharing:

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