Targeted gene under study
Duplications in region 8q12 (2.7 – 6.9 Mb) with a smallest region of overlap of 1.6 Mb. Genes of interest are CA8, ASPH, RAB2B, CLVS1, CHD7CA8, ASPH, RAB2B, CLVS1 and CHD7 with CHD7 as a potentially essential gene.
Abstract
It remains to be elucidated whether individuals with 8q12 microduplications show a distinct, clinically recognizable phenotype because microduplications in this region have only been described in five individuals so far. Phenotypical features included global developmental delay, facial dysmorphism, congenital heart disease, neonatal hypotonia, Duane syndrome, and short stature.
We identified an 8.6 Mb microduplication in region 8q12.1 – 8q13.2 in a seven-month-old female individual described as a floppy infant with developmental delay, short stature, failure to thrive and facial dysmorphism.
Now, we are collecting clinical and genetic data from individuals with microduplications in 8q12 especially duplications encompassing the smallest region of overlap (SRO: Chr8: 60,792,079-62,371,000) of the potential 8q12 syndrome including the genes CA8, ASPH, RAB2B, CLVS1, CHD7CA8, ASPH, RAB2B, CLVS1, and CHD7, or relevant duplications within the SRO. We aim to characterize in detail the clinical phenotype of individuals with microduplications in the 8q12 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
ADERGEN (Génétique Clinique), CHU of Clermont-Ferrand, France
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