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KMID : 1100820230130020120
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Laboratory Medicine Online
2023 Volume.13 No. 2 p.120 ~ p.123
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The First Cases of OPHN1 Exons 1 and 2 Deletion in Two X-linked Intellectual Developmental Disorder Patients in Korea
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Kim Kyoung-Bo
Lee So-Young
Kim Do-Hoon
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Abstract
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OPHN1 is located in Xq12 and acts as a regulator for the development of neural tissues in a fetus. Various spectrums of X-linked intellectual disabilities (XLIDs) can occur due to a loss of function in the OPHN1 gene. In this case study, the authors report two cases of OPHN1-related XLID found in one family in Korea. A 7-year-old boy presented with speech development delay, intellectual disability, and an epilepsy event. There were no specific perinatal history or test results except suggestive mega cisterna magna. His younger brother had a similar phenotype. A chromosomal microarray (CMA) test showed a hemizygous 414 kbp deletion (chrX: 67,582,399-67,997,055) in both brothers, and thereafter a deletion of exons 1 and 2 of OPHN1 was confirmed via PCR. In summary, it is difficult to specify the causative gene of an intellectual disability by symptoms alone. Therefore, CMA can be used as an important diagnostic test along with tests such as whole exome sequencing.
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KEYWORD
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OPHN1, Oligophrenin-1, X-linked intellectual disability, Intellectual disability, Microarray
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