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Background: Intellectual disability, X-linked, syndromic, Christianson type (MRXSCH, OMIM: 300243)-known as Christianson syndrome (CS)-is characterized by microcephaly, epilepsy, ataxia, and absence of verbal language ability. CS is attributed to mutations in the solute carrier family 9 member A6 gene (SLC9A6). Materials and methods: This study reports the case of a boy 1 year and 3 months of age who was diagnosed with CS in our department. Genetic etiology was determined by whole-exome sequencing, and a minigene splicing assay was used to verify whether the mutation affected splicing. A literature review of CS cases was conducted and the clinical and genetic features were summarized. Results: The main clinical manifestations of CS include seizures, developmental regression, and exceptional facial features. Whole-exome sequencing revealed a de novo splice variant in intron 11 (c.1366 + 1G > C) of SLC9A6. The mutation produced two abnormal mRNA products (verified by a minigene splicing assay), resulting in the formation of truncated protein. A total of 95 CS cases were identified in the literature, with various symptoms, such as delayed intellectual development (95/95, 100.00%), epilepsy (87/88, 98.86%), and absent verbal language (75/83, 90.36%). At least 50 pathogenic variants of SLC9A6 have been identified, with the highest frequency observed in exon 12. Conclusion: Our patient is the first case with the c.1366 + 1G > C variant of SLC9A6 in CS. The summary of known cases can serve as a reference for analyzing the mutation spectrum and pathogenesis of CS.
RESUMO
INTRODUCTION: The knives for endoscopic submucosal dissection (ESD) have their strengths as well as shortcomings. They need to be used in combination in most cases. The Dual knife is a relatively novel type of ESD knife produced in 2009, which can be used for completing the whole procedure of ESD. AIM: Colorectal laterally spreading tumors (LSTs) are a special subtype of colorectal neoplasms. We aimed to evaluate the clinical features and outcomes of ESD for colorectal LSTs only using the Dual knife from our experience. MATERIAL AND METHODS: This retrospective study included 162 patients (each patient had 1 lesion) with colorectal LSTs treated by ESD with the Dual knife by a single endoscopist at our hospital between June 2015 and January 2018. We analyzed the clinical features and outcomes after resection. RESULTS: We obtained the en bloc ESD of the colorectal LSTs and the complete histological assessment in all patients. The mean age of the patients was 53.9 years. The mean diameter of lesions was 46 mm. The most common location of LSTs was the rectum. The most common histological type was tubular adenoma with 63 cases. The mean operating time was 56 min. Perforation and bleeding rates were 0.6% and 0.6%, respectively. No cases of local persistence or recurrence were observed at a follow-up endoscopy 6 to 31 months after the en bloc resection. CONCLUSIONS: The ESD using the Dual knife only for colorectal LSTs has the advantages of safety, efficiency, and minimally invasiveness. It is worthy of widespread clinical application.
