Cargando…

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

BACKGROUND: Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. CASE PRESENTATION:...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Xin, Cheng, Qing, Ding, Yu, Li, Qun, Yao, Ruen, Wang, Jian, Wang, Xiumin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625038/ https://www.ncbi.nlm.nih.gov/pubmed/31296181 http://dx.doi.org/10.1186/s12887-019-1608-2

Ejemplares similares

Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2018)

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
por: Habeb, Abdelhadi M., et al.
Publicado: (2018)

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia
por: Yoon, Jaeho, et al.
Publicado: (2021)

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene
por: Zhou, Yunguo, et al.
Publicado: (2023)

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
por: Della Marina, Adela, et al.
Publicado: (2021)

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism
por: Zhang, Cao-Xu, et al.
Publicado: (2021)

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease
por: Jia, Xiaodong, et al.
Publicado: (2020)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation()()()
por: Finsterer, Josef, et al.
Publicado: (2016)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
por: Berry, Gerard T.
Publicado: (2017)

PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype
por: Palmieri, Ilaria, et al.
Publicado: (2021)

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
por: Zhou, Zhaowei, et al.
Publicado: (2018)

The methyltransferase TrmA facilitates tRNA folding through interaction with its RNA-binding domain
por: Keffer-Wilkes, Laura Carole, et al.
Publicado: (2020)

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations
por: Kumawat, Babu Lal, et al.
Publicado: (2016)

Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review
por: Qin, Yong-Zhang, et al.
Publicado: (2022)

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
por: Giardino, Giuliana, et al.
Publicado: (2021)

tRNA elbow modifications affect the tRNA pseudouridine synthase TruB and the methyltransferase TrmA
por: Schultz, Sarah Kai-Leigh, et al.
Publicado: (2020)

Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
por: Isaacs, David, et al.
Publicado: (2017)

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations
por: Millar Vernetti, Patricio, et al.
Publicado: (2020)

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
por: Chen, Yixin, et al.
Publicado: (2018)

Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
por: Li, Yu-Ming, et al.
Publicado: (2023)

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
por: Rafalska, Agnieszka, et al.
Publicado: (2020)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature
por: Li, Shentang, et al.
Publicado: (2019)

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
por: Wang, Chen, et al.
Publicado: (2020)

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report
por: Wang, Cheng-Lin
Publicado: (2019)

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
por: Qin, Yuan-yuan, et al.
Publicado: (2019)

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction
por: Wang, Huiying, et al.
Publicado: (2014)

Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
por: Sacilotto, Luciana, et al.
Publicado: (2017)

Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations
por: Yao, Jun, et al.
Publicado: (2015)

Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case report
por: Ma, Yuping, et al.
Publicado: (2020)

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy
por: Fukada, Masahide, et al.
Publicado: (2019)

Novel MEI1 compound heterozygous mutation in a sporadic family associated with spermatogenetic failure
por: Chen, Jie, et al.
Publicado: (2022)

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
por: Sremba, L.J., et al.
Publicado: (2014)

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease
por: Whitford, Whitney, et al.
Publicado: (2017)

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations
por: Zhang, Jian-hui, et al.
Publicado: (2021)

A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy
por: Zhao, Ruiqin, et al.
Publicado: (2022)

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts
por: He, Xiaohui, et al.
Publicado: (2022)

Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
por: Cho, Tae-Joon, et al.
Publicado: (2010)

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
por: Jun, Ikhyun, et al.
Publicado: (2021)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_ppaf624043nfop9ld1p1jl7spp