Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method

The oligophrenin-1 (OPHN1) gene is localized in the Xq12 region and it encodes rho-GTPase-activating protein which spans 500 kb size consists of 25 exons. Gene plays crucial role synaptic function dendritic morphogenesis. Here we report a 391 deletion OPHN1 mother her newborn male child with recognizable pattern clinical neuroradiological hallmarks. Mother has short stature, son distinctive facial appearance, bilateral choroid plexus cysts low birth weight (1600 g). After evaluation, current large intragenic was identified by microarray-CGH confirmed MLPA techniques. P106 MRX probemix kit (MRC Holland C1- 0416, Amsterdam) Coffalyser software were used for Agilent sure print G3 HUMAN CGH 60k Microarray platform cytogenomics 4.0.2.21 (Singapore) advance chromosomal genotyping his presented results. Presented results showed that X chromosome great risk to have mental retardation due deleted transmission 50% possibility. If findings, genotype should be screened using advanced genetic methodology. Results also once these cases are first diagnosed correctly, they may candidate IVF preimplantation diagnosis giving appropriate counseling. It comment pregnant women who history having X-linked retarded or mentally brother need tested genetically prenatal diagnosis.