Gene/phenotype/disorder under study
Deletions in region 2q31.2 – 2q32.3 with a smallest region of overlap of 4 Mb in region 2q31.3 – 2q32.1. Genes of interest are ITGA4, CERKL, NEUROD1, PDE1A, NCKAP1, and ZNF804A.
Abstract
Individuals with deletions in region 2q31.2 – 2q32.3 are associated with the scarcely described 2q31.2 – 2q32.3 deletion syndrome. It remains to be elucidated whether individuals with a 2q31.2 – 2q32.3 microdeletion show a distinct, clinically recognizable phenotype. Previously described phenotypical features included global developmental delay, moderate to severe intellectual disability, facial dysmorphism, speech delay or absent speech, scoliosis, and behavioural phenotypes.
We identified a 5.8 Mb microdeletion in region 2q31.3 – 2q32.1 in a two-year-old male individual with developmental delay, autism, tall stature, and facial dysmorphism.
Now, we are collecting clinical and genetic data from individuals with microdeletions in 2q31.2 – 2q32.3, especially with microdeletions encompassing the proposed smallest region of overlap (SRO) 2q31.3 – 2q32.1 including the genes ITGA4, CERKL, NEUROD1, PDE1A, NCKAP1, and ZNF804A, or relevant deletions within the SRO. We aim to characterize the detailed clinical phenotype of individuals with microdeletions in the 2q31.2 – 2q32.3 region and narrow down putative essential genes.
Coordinating clinicians
PD Dr. med. Nuria Brämswig, Senior Physician and Group Leader Rare Diseases – nuria.braemswig@ukmuenster.de
Dr. rer. nat. Katharina Poschmann, Cytogenetics – katharina.poschmann@ukmuenster.de
Institution
Department of Medical GeneticsCentre of Medical Genetics, University and University Hospital Münster, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No