OBJECTIVE: To provide appropriate treatment strategy and precise genetic counseling through studying the phenotype and genotype of a patient featuring learning difficulty and abnormal gait. METHODS: Detailed history taking, physical examination and auxiliary examination (including neuropsychological evaluation, brain imaging and skeletal system X ray) were conducted. The patient was also analyzed by whole exome sequencing, G banding karyotyping and array-based comparative genomic hybridization (aCGH). Multiples ligation-dependent probe amplification (MLPA) was applied to his parents to determine the origin of genomic variation. RESULTS: In addition to obvious dermatological manifestation (Cafe-au-Lait spots), the patient also had facial abnormalities, ocular disorders, skeletal malformations, neurological manifestations, psychiatric and behavioral abnormalities. Whole exome sequencing and G banding karyotyping were both negative. aCGH has identified a microdeletion at 17q11.2, which encompassed the NF1 and neighboring genes. Neither parents has carried the same microdeletion by MLPA analysis. CONCLUSION The patient had a de novo 17q11.2 microdeletion, which probably accounted for his neurofibromatosis type 1-microdeletion syndrome phenotype.

Objective:To understand the cognition and attitude of medical staff towards medical ethics review, analyze possible influencing factors, to put forward relevant suggestions for strengthening ethical management in the future.Methods:From November 2021 to May 2022, a self-designed questionnaire and general data questionnaire on the cognition and attitude of medical staff to ethical issues in clinical research were used to investigate 408 medical staff from two first-class ternary hospitals in Hunan Province, data was analyzed to explore the respondents′ cognition and attitude, as well as related influence factors.Results:The average cognitive score of medical staff was 65.41, and the average attitude score was 91.83. Many possible influence actors regarding the cognition were identified, including degree, technical title, professional field, number of clinical research projects engaged as investigators, number of clinical research projects conducted as principle investigators, whether the hospital has established an ethics committee, and research ethics training experiences. While the influence factors of attitude were experiences of conducting and engaging in clinical research, the construction of hospital ethics committee and research ethics trainings.Conclusions:Medical staffs have the willingness to explore more research ethics knowledge, while their cognition of research ethics should be improved. Root-cause analysis should be conducted to identify influencing factors for improvement. The research management department should strengthen the publicity and training of clinical research ethics of medical staff, to improve their clinical research ethics knowledge literacy, and ensure the well-functioning of clinical research ethics review.