Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report
Neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages. This article analyzes and summarizes the diagnostic process of a family affected by adult neuronal ceroid lipofuscinosis caused...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Clinical Parkinsonism & Related Disorders |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S259011252500088X |
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| author | Yubo Hu Haochen Sun Qin Jiang Juan Wang Shugang Zhang Xingjian Lin |
| author_facet | Yubo Hu Haochen Sun Qin Jiang Juan Wang Shugang Zhang Xingjian Lin |
| author_sort | Yubo Hu |
| collection | DOAJ |
| description | Neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages. This article analyzes and summarizes the diagnostic process of a family affected by adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation. We collected clinical data from a 48-year-old female patient with neuronal ceroid lipofuscinosis who visited Nanjing Brain Hospital in March 2024. She has presented with corresponding symptoms since 2020. The patient underwent whole exome sequencing (WES) and other examinations. WES showed that both the patient and her elder brother, who exhibited similar symptoms of walking instability, were homozygous for a mutation in the CLN6 gene. This variant (c.856C > T: p.Leu286Phe) has not been previously reported and is classified as a Variant of Uncertain Significance (VUS) based on current American College of Medical Genetics and Genomics/Association for Molecular Pathology(ACMG/AMP) guidelines. Both of the patient’s parents displayed normal phenotypes but were found to have heterozygous mutations in the CLN6 gene. Additionally, no nuclear inclusion bodies were found in the patient’s skin tissue. |
| format | Article |
| id | doaj-art-d36d02135cf34955919652acdf9f76f7 |
| institution | Kabale University |
| issn | 2590-1125 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Clinical Parkinsonism & Related Disorders |
| spelling | doaj-art-d36d02135cf34955919652acdf9f76f72025-08-20T03:41:26ZengElsevierClinical Parkinsonism & Related Disorders2590-11252025-01-011310038410.1016/j.prdoa.2025.100384Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case reportYubo Hu0Haochen Sun1Qin Jiang2Juan Wang3Shugang Zhang4Xingjian Lin5Medical College, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, ChinaDepartment of Neurology, Nanjing Brain Hospital, Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, ChinaDepartment of Radiology, Nanjing Brain Hospital, Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, ChinaDepartment of Pathology, Nanjing Brain Hospital, Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, ChinaDepartment of Neurology, Nanjing Brain Hospital, Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China; Corresponding authorsat: No. 264 Guangzhou Road, Gulou District, Nanjing City, Jiangsu Province, China.Department of Neurology, Nanjing Brain Hospital, Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China; Corresponding authorsat: No. 264 Guangzhou Road, Gulou District, Nanjing City, Jiangsu Province, China.Neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages. This article analyzes and summarizes the diagnostic process of a family affected by adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation. We collected clinical data from a 48-year-old female patient with neuronal ceroid lipofuscinosis who visited Nanjing Brain Hospital in March 2024. She has presented with corresponding symptoms since 2020. The patient underwent whole exome sequencing (WES) and other examinations. WES showed that both the patient and her elder brother, who exhibited similar symptoms of walking instability, were homozygous for a mutation in the CLN6 gene. This variant (c.856C > T: p.Leu286Phe) has not been previously reported and is classified as a Variant of Uncertain Significance (VUS) based on current American College of Medical Genetics and Genomics/Association for Molecular Pathology(ACMG/AMP) guidelines. Both of the patient’s parents displayed normal phenotypes but were found to have heterozygous mutations in the CLN6 gene. Additionally, no nuclear inclusion bodies were found in the patient’s skin tissue.http://www.sciencedirect.com/science/article/pii/S259011252500088XNeuronal ceroid lipofuscinosisCase reportGeneticsPathologyDiagnosis |
| spellingShingle | Yubo Hu Haochen Sun Qin Jiang Juan Wang Shugang Zhang Xingjian Lin Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report Clinical Parkinsonism & Related Disorders Neuronal ceroid lipofuscinosis Case report Genetics Pathology Diagnosis |
| title | Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report |
| title_full | Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report |
| title_fullStr | Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report |
| title_full_unstemmed | Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report |
| title_short | Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report |
| title_sort | diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by cln6 gene mutation a case report |
| topic | Neuronal ceroid lipofuscinosis Case report Genetics Pathology Diagnosis |
| url | http://www.sciencedirect.com/science/article/pii/S259011252500088X |
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