دورية أكاديمية
أعرض في EDS

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

التفاصيل البيبلوغرافية
العنوان: Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
المؤلفون: Tao C; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China., Zhao M; Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Zhang X; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China., Hao J; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Huo Q; Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Sun J; Department of Ultrasound Diagnosis of Gynecology and Obstetrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Xing J; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China., Zhang Y; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China., Zhao J; Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China. zhaojh_2002@hebmu.edu.cn., Huang H; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China. huang71526@163.com.
المصدر: BMC infectious diseases [BMC Infect Dis] 2024 Jan 30; Vol. 24 (1), pp. 145. Date of Electronic Publication: 2024 Jan 30.
نوع المنشور: Review; Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968551 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2334 (Electronic) Linking ISSN: 14712334 NLM ISO Abbreviation: BMC Infect Dis Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, [2001-
مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/diagnosis , Niemann-Pick Disease, Type C*/genetics, Child ; Humans ; Male ; Carrier Proteins/genetics ; Mutation ; Niemann-Pick C1 Protein/genetics ; Prenatal Diagnosis
مستخلص: Background: Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly. Herein, we identified a novel compound heterozygous mutations of the NPC1 gene in a Chinese pedigree.
Case Presentation: This paper describes an 11-year-old boy with aggravated walking instability and slurring of speech who presented as Niemann-Pick Disease type C. He had the maternally inherited c.3452 C > T (p. Ala1151Val) mutation and the paternally inherited c.3557G > A (p. Arg1186His) mutation using next-generation sequencing. The c.3452 C > T (p. Ala1151Val) mutation has not previously been reported.
Conclusions: This study predicted that the c.3452 C > T (p. Ala1151Val) mutation is pathogenic. This data enriches the NPC1 gene variation spectrum and provides a basis for familial genetic counseling and prenatal diagnosis.
(© 2024. The Author(s).)
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فهرسة مساهمة: Keywords: Case report; Compound heterozygous mutations; NPC1 gene; Niemann-pick disease; Novel mutation
المشرفين على المادة: 0 (Carrier Proteins)
0 (Niemann-Pick C1 Protein)
0 (NPC1 protein, human)
تواريخ الأحداث: Date Created: 20240130 Date Completed: 20240208 Latest Revision: 20240208
رمز التحديث: 20240209
مُعرف محوري في PubMed: PMC10826013
DOI: 10.1186/s12879-024-09025-5
PMID: 38291356
قاعدة البيانات: MEDLINE
الوصف
تدمد:1471-2334
DOI:10.1186/s12879-024-09025-5