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Multiplex Ligation-dependent Probe Amplification 방법을 이용한 정신지체와 수면장애를 가진 Smith-Magenis Syndrome 환자의 진단 Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification
| Content Provider | Semantic Scholar |
|---|---|
| Author | Oh, Joowon Lee, Seungjae Lee, Kyung-A. Yoo, Jong-Ha |
| Copyright Year | 2018 |
| Abstract | eISSN 2093-6338 was suffering from mental retardation and developmental delay. His developmental delay was noticed at the age of 1. Additionally, he exhibited sleep disturbances and abnormal behavior, such as self-injury. He had dysmorphic features including brachycephaly and frontal bossing. For diagnosis of the patient, we conducted a conventional cytogenetic study and a microdeletion assay using MLPA. In the conventional chromosomal study, the karyotype was normal, and it was reported as 46,XY [20]. As we suspected a microdeletion syndrome based on his phenotype, we decided to perform MPLA analysis. We conducted the assay with MLPA P245B1 microdeletion syndromes-1 probemix (MRC-Holland, Amsterdam, The Netherlands). Analysis of the mutation was performed using GeneMarker 1.70 (Softgenetics, Pennsylvania, USA), and the analysis was based on the relative peak values of each probe ampli cation divided by the value of the control probes. The threshold values to detect deletion and ampli cation of the genes were set at 0.65 and 1.3, respectively. A microdeletion screening test revealed deletions of RAI1, dynein regulatory complex subunit 3 (DRC3), and scribble cell polarity complex component (LLGL1) gene loci (Fig. 1A), which were diagnostic ndings of Smith-Magenis syndrome with an interstitial deletion in 17p11.2. To con rm SMS, we conducted MLPA using the P374-A1 probemix covering more loci, including COP9 signalosome subunit 3 (COPS3), RAI1, microRNA 33b (MIR33B), target of myb1 like 2 membrane trafficking protein (TOM1L2), phosphoribosyl pyrophosphate synthetase associated protein 2 (PRPSAP2), and microfibril associDear Editor, Smith-Magenis syndrome (SMS) is characterized by mental retardation and developmental delay caused by an interstitial deletion of chromosome 17p11.2 or a mutation in the retinoic acid induced 1 (RAI1) gene [1, 2]. Additional phenotypes include neurobehavioral problems, such as self-injury and attention-seeking, sleep disorder, and distinctive craniofacial anomalies [3]. Most cases of SMS are de novo; in extremely rare cases, inheritance from parents has been reported [4]. While the worldwide incidence of SMS is estimated to be one in 15,000–25,000 people [3, 5], reports of occurrence of SMS are relatively infrequent in Korea [6-9]. We report a Korean SMS case con rmed by multiplex ligation-dependent probe ampli cation (MLPA) analysis. The patient was a 25-year-old Korean male, the rst child of non-consanguineous parents with no relevant family history of SMS. He visited the outpatient clinical genetics department as he Multiplex Ligation-dependent Probe Amplification 방법을 이용한 정신지체와 수면장애를 가진 Smith-Magenis Syndrome 환자의 진단 Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://labmedonline.org/Synapse/Data/PDFData/9997LMO/lmo-8-71.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
