Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype

The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. precise relationships between the causative genes phenotype are unclear. We report two new cases of 860 kb deletion 10q26.2 identified by array CGH in fetus with intrauterine growth retardation his mother. deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS FOX12. proband had dysmorphic facies characterized high forehead, malformed ears, prominent nose, retrognathia. He bilateral club feet, clinodactily mild psychomotor retardation. His mother short stature, microcephaly, long face forehead bitemporal narrowing, arched sparse eyebrows, strabismus, nose chin, thin upper lip large protruding intellectual disability. This study presents smallest so far identified, which further refines minimal critical associated syndrome. It focuses on three potentially responsible for phenotype: major candidate gene, INSYN2 NPS, could be involved cognitive functions.