Table 1 The baseline characteristics of the included studies
From: Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China
No | Author, year | Sample size | Genotype | Title | Source |
|---|---|---|---|---|---|
1 | Xu et al. [18] | 7 | Val30Ala | Transthyretin Val30Ala mutation in a Chinese family with familial amyloid polyneuropathy: clinical, pathological and genetic investigation | Chinese Journal of Neurology |
2 | Li et al. [13] | 24 | Val30Met | Clinical and genetic analysis of three families with familiar amyloid polyneuropathy | Chinese Medical Sciences Journal |
Phe33Val | |||||
Gly67Glu | |||||
3 | Xi et al. [30] | 1 | Glu54Lys | A Case of Familial Amyloid Polyneuropathy with a Transthyretin Glu54Lys Mutation | Chinese Journal of Clinical Neurosciences |
4 | Liu et al. [17] | 1 | Val30Ala | Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family | Journal of the Neurological Sciences |
5 | Zhang et al. [35] | 1 | Tyr114Cys | Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation | Neuro-degenerative diseases |
6 | Chen et al. [8] | 2 | Gly83Arg | Transthyretin Arg-83 mutation in vitreous amyloidosis | International Journal of Ophthalmology |
7 | Long et al. [21] | 15 | Lys35Thr | Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg | Ophthalmic genetics |
Leu55Arg | |||||
8 | Zhang et al. [12] | 9 | Gly83Arg | Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families | Molecular Vision |
9 | Zou et al. [22] | 6 | Ala36Pro | Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor | Experimental Eye Research |
10 | Xie et al. [11] | 1 | Gly83Arg | Family with familial vitreous amyloidosis with thyroid hormone binding protein Gly83Arg mutation | Chinese Journal of Ocular Fundus Diseases |
11 | Liu et al. [10] | 12 | Gly83Arg | Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation | Eye |
12 | Yin et al. [9] | 1 | Gly83Arg | Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review | Amyloid |
13 | Fan et al. [23] | 1 | Gly47Arg | Myocardial involvement in transthyroxine protein-associated amyloidosis: a case report | Chinese Journal of Cardiology |
14 | Lv et al. [15] | 1 | Ile107Met | Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation | Eye |
15 | Guan et al. [19] | 13 | Val30Ala | Clinical, neuropathological and genetic findings in patients with transthyretin-associated familial amyloid polyneuropathy | Chinese Journal of Neurology |
Val30Met | |||||
Phe33Leu | |||||
Lys35Asn | |||||
Asp38Val | |||||
Gly47Arg | |||||
Gly53Glu | |||||
Glu54Gln | |||||
Glu54Lys | |||||
16 | Meng et al. [2] | 9 | Val30Met | Hereditary Transthyretin Amyloidosis in Eight Chinese Families | Chinese Medical Journal |
Phe33Leu | |||||
Ala36Pro | |||||
Val30Ala | |||||
Phe33Val | |||||
Glu42Gly | |||||
17 | Chen et al. [16] | 1 | Val50Leu | Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy | Scientific Reports |
18 | Cheng et al. [16] | 1 | Val50Met | Late-onset familial amyloid peripheral neuropathy: a case report and literature review | Chinese Journal of Nervous and Mental Diseases |
19 | Hu et al. [27] | 1 | Ala117Ser | Familial amyloid cardiomyopathy masquerading as chronic Guillain–Barre syndrome: things are not always what they seem | Frontiers of Medicine |
20 | Liu et al. [32] | 5 | Thr49Ala | Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds | Journal of the Peripheral Nervous System |
Leu55Arg | |||||
Tyr116Ser | |||||
Ala36Pro | |||||
21 | Xu et al. [33] | 1 | Leu75Pro | Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation A case report | Medicine |
22 | Yang et al. [31] | 1 | Val50Leu | Clinical and electrophysiological features of familial amyloid polyneuropathy induced by TTR Val50Leu mutation | Chinese Journal of Neuroimmunology and Neurology |
23 | Chen et al. [34] | 1 | Leu75Pro | Liver transplantation for the treatment of hereditary amyloidosis of transthyroid protein: a case report | Chinese Journal of Hepatobiliary Surgery |
24 | Zhu et al. [14] | 1 | Lys35Thr | Pathogenic gene mutation in a Han Chinese family with hereditary vitreous amyloidosis identified by Sanger sequencing | Chinese Journal of Clinical Laboratory Science |
25 | Chen et al. [26] | 1 | Ala117Ser | A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy | Molecular Neurobiology |
26 | Hu et al. [37] | 1 | Glu74Lys | A Family Report and Literature Review of TTR-type FAP with Eye Abnormalities | Journal of Apoplexy and Nervous Diseases |
27 | Yuan et al. [29] | 1 | Ala117Ser | Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G > T in the transthyretin gene | Journal of Clinical Neuroscience |
28 | Fan et al. [25] | 5 | Asp18Gly | The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis | Journal of Neurology |
29 | Miao [36] | 1 | Phe84Ser | A case of amyloid peripheral neuropathy with central involvement caused by phe84ser mutation | Chinese Journal of Integrative Medicine on Cardiocerebrovascular Disease |
30 | Qin [28] | 1 | Ala117Ser | Noninvasive diagnosis of hereditary transthyretin-related cardiac amyloidosis: A case report | Medicine |