Targeted gene/disorder under study:

12q14.1q15 deletion; HMGA2 (OMIM 600698); LEMD3 (OMIM 607844)


Patients with interstitial deletion of chromosome 12q14 were first described in 2007. 
30 patients were reported in literature with a deletion ranging from 425kb to 9 Mb between 12q14.1 and 12q15. Their phenotype included prenatal and postnatal growth retardation, developmental delay, intellectual disability, feeding difficulties and facial dysmorphic features. Several candidate genes are mentioned in the literature. For example, HMGA2 may be associated with prenatal and postnatal growth retardation and LEMD3 may be associated with osteopoikilosis.
We identified a 7.1Mb heterozygous deletion involving the interstitial region 12q14.1q15 (62,261,096-69,279,627)(hg19)  in a patient who exhibits a phenotype including short stature and developmental delay. 
We aim to further describe the phenotype of patients with a similar deletion and better characterize the phenotype-genotype correlation. 

Coordinating clinicians

COUASNON Anaïs :      
Dr VINCENT Aline :     
Dr GRUCHY Nicolas :


Service de genetique, CHU de Caen, Caen, 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