دورية أكاديمية
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
| العنوان: | Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China. |
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| المؤلفون: | Liu L; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Zeng S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Xie Y; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Xu K; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Yang H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Huang S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Zhang R; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China. |
| المصدر: | Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 243-251. Date of Electronic Publication: 2024 May 21. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2010->: Hoboken, NJ Wiley Original Publication: New York, NY : Woodland Publications, c1996- |
| مواضيع طبية MeSH: | Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/physiopathology , Genetic Association Studies*, Humans ; Female ; Male ; Adult ; China/epidemiology ; Cohort Studies ; Adolescent ; Child ; Mutation ; Transcription Factors/genetics ; Young Adult ; DNA-Binding Proteins/genetics ; Middle Aged ; Pedigree ; Child, Preschool |
| مستخلص: | Background and Aims: This study aimed to report nine Charcot-Marie-Tooth disease (CMT) families with six novel IGHMBP2 mutations in our CMT2 cohort and to summarize the genetic and clinical features of all AR-CMT2S patients reported worldwide. Methods: General information, clinical and neurophysiological data of 275 axonal CMT families were collected. Genetic screening was performed by inherited peripheral neuropathy related genes panel or whole exome sequencing. The published papers reporting AR-CMT2S from 2014 to 2023 were searched in Pubmed and Wanfang databases. Results: In our CMT2 cohort, we detected 17 AR-CMT2S families carrying IGHMBP2 mutations and eight were published previously. Among these, c.743 T > A (p.Val248Glu), c.884A > G (p.Asp295Gly), c.1256C > A (p.Ser419*), c.2598_2599delGA (p.Lys868Sfs*16), c.1694_1696delATG (p.Asp565del) and c.2509A > T (p.Arg837*) were firstly reported. These patients prominently presented with early-onset typical axonal neuropathy and without respiratory dysfunction. So far, 56 AR-CMT2S patients and 57 different mutations coming from 43 families have been reported in the world. Twenty-nine of 32 missense mutations were clustered in helicase domain and ATPase region. The age at onset ranged from 0.11to 20 years (Mean ± SD: 3.43 ± 3.88 years) and the majority was infantile-onset (<2 years). The initial symptoms included weakness of limbs (19, 29.7%), delayed milestones (12, 18.8%), gait disturbance (11, 17.2%), feet deformity (8, 12.5%), feet drop (8, 12.5%), etc. INTERPRETATION: AR-CMT2S accounted for 6.2% in our CMT2 cohort. We firstly reported six novel IGHMBP2 mutations which expanded the genotypic spectrum of AR-CMT2S. Furthermore, 17 AR-CMT2S families could provide more resources for natural history study, drug research and development. (© 2024 Peripheral Nerve Society.) |
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| معلومات مُعتمدة: | W20243214 Health Research Project of Hunan Provincial Health Commission; 82001338 National Natural Science Foundation of China; 82171172 National Natural Science Foundation of China; 2024JJ5521 Natural Science Foundation of Hunan Province; 2022JJ30910 Natural Science Foundation of Hunan Province |
| فهرسة مساهمة: | Keywords: AR‐CMT2S; Charcot–Marie–Tooth disease; IGHMBP2; genotype‐phenotype; novel mutation |
| المشرفين على المادة: | 0 (Transcription Factors) 0 (IGHMBP2 protein, human) 0 (DNA-Binding Proteins) |
| تواريخ الأحداث: | Date Created: 20240521 Date Completed: 20240626 Latest Revision: 20240722 |
| رمز التحديث: | 20240722 |
| DOI: | 10.1111/jns.12633 |
| PMID: | 38772550 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1529-8027 |
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| DOI: | 10.1111/jns.12633 |