Yuan Zhang, Yu Lu, Xicui Long, Wenyu Xiong, Yuqing Liu
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引用次数: 0
Abstract
This article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the gene mutation. Genetic testing revealed a heterozygous mutation of the CHD7 gene NM_017780.4: C.4853G >A (P.TP1618ter) in the child, which was identified as a de novo pathogenic mutation. Through this case, we conclude that genetic testing is crucial for accurate diagnosis of deafness. Moreover, paying attention to hearing screening in childhood and strengthening the cognitive level of diagnosis and treatment of syndromic deafness in multiple disciplines can effectively realize early detection, early diagnosis, early intervention, and early rehabilitation of syndromic deafness.
期刊介绍：
SAGE Open Medical Case Reports (indexed in PubMed Central) is a peer reviewed, open access journal. It aims to provide a publication home for short case reports and case series, which often do not find a place in traditional primary research journals, but provide key insights into real medical cases that are essential for physicians, and may ultimately help to improve patient outcomes. SAGE Open Medical Case Reports does not limit content due to page budgets or thematic significance. Papers are subject to rigorous peer review and are selected on the basis of whether the research is sound and deserves publication. By virtue of not restricting papers to a narrow discipline, SAGE Open Medical Case Reports facilitates the discovery of the connections between papers, whether within or between disciplines. Case reports can span the full spectrum of medicine across the health sciences in the broadest sense, including: Allergy/Immunology Anaesthesia/Pain Cardiovascular Critical Care/ Emergency Medicine Dentistry Dermatology Diabetes/Endocrinology Epidemiology/Public Health Gastroenterology/Hepatology Geriatrics/Gerontology Haematology Infectious Diseases Mental Health/Psychiatry Nephrology Neurology Nursing Obstetrics/Gynaecology Oncology Ophthalmology Orthopaedics/Rehabilitation/Occupational Therapy Otolaryngology Palliative Medicine Pathology Pharmacoeconomics/health economics Pharmacoepidemiology/Drug safety Psychopharmacology Radiology Respiratory Medicine Rheumatology/ Clinical Immunology Sports Medicine Surgery Toxicology Urology Women''s Health.
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