• Alina Bogliş, Adriana S Cosma, Florin Tripon, and Claudia Bãnescu.
• aLaboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureş, Târgu Mureş¸ Romania bDepartment of Genetics, George Emil Palade University of Medicine, Pharmacy, Sciences, and Technology of Târgu Mureş, Târgu Mureş, Romania cLaboratory of Molecular Biology/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Sciences, and Technology of Târgu Mureş, Târgu Mureş, Romania.
• Medicine (Baltimore). 2020 Aug 14; 99 (33): e21632.

IntroductionThe oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the OPHN1 gene.Patient ConcernsIn this report, we present the clinical and molecular findings of a family affected by a mild XLID due to a deletion in the OPHN1 gene, exon 21, Xq12 region using Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The clinical features present in the family are a mild developmental delay, behavioral disturbances, facial dysmorphism, pes planus, nystagmus, strabismus, epilepsy, and occipital arachnoid cyst.InterventionsThe MLPA analysis was performed for investigation of the copy number variations within the X chromosome for the family.Diagnosis And OutcomeThe MLPA analysis detected a deletion in the OPHN1 gene, exon 21 for the proband, and a heterozygous deletion for the probands mother. The deletion of the Xq12 region of maternal origin, including the exon 21 of the OPHN1 gene, confirmed for the probands nephew.LessonsOur findings emphasize the utility of the MLPA analysis to identify deletions in the OPHN1 gene responsible for syndromic XLID. Therefore, we suggest that MLPA analysis should be performed as an alternative diagnostic test for all patients with a mild intellectual disability associated or not with behavioral disturbances, facial dysmorphism, and brain anomalies.

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