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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