Case Report

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

Table 1

OMIM genes located in the deleted 10q26.2q26.3 region.

Gene symbolGene titleFunctionOMIM

DOCK1 Dedicator of cytokinesis 1Cell migration, phagocytosis [7]601403
PPP2R2D Protein phosphatase 2, regulatory subunit B, and deltaCause of developmental delay or intellectual disability [4]613992
BNIP3 BCL2/adenovirus E1B 19 kDa interacting protein 3Cause of developmental delay or intellectual disability [4]603293
DPYSL4 Dihydropyrimidinase-like 4Neuronal differentiation [3, 5]608407
INPP5A Inositol polysphosphate-5-phosphataseCentral nervous system development [2]600106
GPR123 G protein-coupled receptor 123Central nervous system development [2]612302
ADAM8 ADAM metallopeptidase domain 8Neurogenesis, muscle development [7]602267
CALY Calcyon neuron-specific vesicular proteinVesicle trafficking-related functions [2]604647

OMIM: Online Mendelian Inheritance in Man.