Cargando…

Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant

OBJECTIVE: To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population. METHODS: Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis. RESULTS: A Chinese Zang ethnic girl could not stand o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guan, Yu-Jia, Guo, Yan-Nan, Peng, Wen-Tao, Liu, Li-Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051362/ https://www.ncbi.nlm.nih.gov/pubmed/35498770 http://dx.doi.org/10.3389/fped.2022.860990

Ejemplares similares

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
por: Yang, Yong-jia, et al.
Publicado: (2015)

Analysis of CTNS gene transcripts in nephropathic cystinosis
por: Taranta, Anna, et al.
Publicado: (2010)

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns
por: Cherqui, Stéphanie, et al.
Publicado: (2000)

CTNS mutations in publicly-available human cystinosis cell lines
por: Zykovich, Artem, et al.
Publicado: (2015)

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
por: Chkioua, Latifa, et al.
Publicado: (2022)

Cystinosis and two rare mutations in CTNS gene: two case reports
por: Gholami Yarahmadi, Sepideh, et al.
Publicado: (2022)

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene
por: Chkioua, Latifa, et al.
Publicado: (2015)

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
por: Elmonem, Mohamed A., et al.
Publicado: (2017)

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East
por: Najafi, Maryam, et al.
Publicado: (2019)

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report
por: Papizh, Svetlana, et al.
Publicado: (2019)

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
por: Anastasiya, Kozina A., et al.
Publicado: (2018)

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
por: Francisco, Ana A., et al.
Publicado: (2021)

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations
por: Sadeghipour, Forough, et al.
Publicado: (2017)

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis
por: Bondue, Tjessa, et al.
Publicado: (2023)

The novel aminoglycoside, ELX-02, permits CTNS(W138X) translational read-through and restores lysosomal cystine efflux in cystinosis
por: Brasell, Emma J., et al.
Publicado: (2019)

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties
por: Francisco, Ana A., et al.
Publicado: (2023)

Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations)
por: Horsthuis, Douwe John, et al.
Publicado: (2023)

Structured Transition Protocol for Children with Cystinosis
por: Raina, Rupesh, et al.
Publicado: (2017)

Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child
por: Li, Jia-Qi, et al.
Publicado: (2023)

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia
por: Han, Meigui, et al.
Publicado: (2022)

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
por: Bäumner, Sören, et al.
Publicado: (2018)

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
por: Zhang, Qiang, et al.
Publicado: (2022)

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
por: Wang, Hui, et al.
Publicado: (2022)

Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
por: Mao, Shao-Jia, et al.
Publicado: (2022)

Fertility in Cystinosis
por: Reda, Ahmed, et al.
Publicado: (2021)

Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
por: Yang, Hansong, et al.
Publicado: (2022)

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants
por: Tan, Bo, et al.
Publicado: (2023)

New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
por: Han, Shu, et al.
Publicado: (2022)

Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family
por: Liu, Yi, et al.
Publicado: (2023)

Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene
por: Alosaimi, Mohammed F., et al.
Publicado: (2023)

Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
por: Liu, Jing, et al.
Publicado: (2023)

Case report: 17α− hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients
por: Li, Jinying, et al.
Publicado: (2022)

Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease
por: Dong, Fang, et al.
Publicado: (2021)

Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone
por: Wu, Shimin, et al.
Publicado: (2022)

Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria
por: Huang, Huimei, et al.
Publicado: (2022)

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies
por: Elmonem, Mohamed A., et al.
Publicado: (2022)

Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus
por: Elgharbawy, Fawzia M., et al.
Publicado: (2023)

Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4
por: Zhu, Hao, et al.
Publicado: (2022)

Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency
por: Babiker, Mohamed O. E., et al.
Publicado: (2022)

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency
por: Liu, Xiaoyu, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_pvbt1h7cih5l5e164cgk0ujdoj