Cargando…

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

BACKGROUND: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate marker gen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ho, Chi-Chun, Tsung, Lilian Li-Yan, Liu, Kam-Tim, Poon, Wing-Tat
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134758/ https://www.ncbi.nlm.nih.gov/pubmed/30208878 http://dx.doi.org/10.1186/s12881-018-0679-5

Ejemplares similares

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)

A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
por: Wang, Ping, et al.
Publicado: (2018)

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
por: Essawi, Mona L., et al.
Publicado: (2021)

Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India
por: Gowda, Vykuntaraju K., et al.
Publicado: (2017)

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
por: Sperb-Ludwig, F., et al.
Publicado: (2014)

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations
por: He, Si-jia, et al.
Publicado: (2023)

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
por: Wood, Kirsten A., et al.
Publicado: (2017)

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
por: Di Lorenzo, Giorgia, et al.
Publicado: (2021)

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations
por: Liu, Shuang, et al.
Publicado: (2016)

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
por: Alegra, Taciane, et al.
Publicado: (2014)

Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
por: Idol, Rachel A., et al.
Publicado: (2014)

Correction: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
Publicado: (2014)

Mucolipidosis type III, a series of adult patients
por: Oussoren, Esmee, et al.
Publicado: (2018)

Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering
por: Gunasekaran, Nandhini Devi, et al.
Publicado: (2021)

2404. Molecular Epidemiology of Clostridioides difficile in the United States, 2017
por: Paulick, Ashley, et al.
Publicado: (2019)

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
por: Sperb-Ludwig, Fernanda, et al.
Publicado: (2019)

Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
por: Song, Junghan, et al.
Publicado: (2003)

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
por: de Bode, Chiel J., et al.
Publicado: (2022)

Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians
por: Ho, Chi-Chun, et al.
Publicado: (2017)

Knowledge and Attitudes about Antibiotics and Antibiotic Resistance of 2404 UK Healthcare Workers
por: Ashiru-Oredope, Diane, et al.
Publicado: (2022)

Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
por: Chen, Huan, et al.
Publicado: (2015)

Probing pathomechanisms of mucolipidosis II in fish
Publicado: (2012)

Hip Morphology in Mucolipidosis Type II
por: Ammer, Luise Sophie, et al.
Publicado: (2020)

The Dictyostelium Model for Mucolipidosis Type IV
por: Allan, Claire Y., et al.
Publicado: (2022)

Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopurine Intolerant Variant Alleles NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C)
por: Fong, Wai-Ying, et al.
Publicado: (2017)

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
por: Yang, Mina, et al.
Publicado: (2017)

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
por: Arunkumar, Nivethitha, et al.
Publicado: (2021)

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
por: Velho, Renata Voltolini, et al.
Publicado: (2014)

Autophagic dysfunction in mucolipidosis type IV patients
por: Vergarajauregui, Silvia, et al.
Publicado: (2008)

Bilateral carpal tunnel syndrome and multiple trigger fingers in a child with mucolipidosis Type III disease
por: Afshar, Ahmadreza
Publicado: (2011)

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
por: Hong, Xinying, et al.
Publicado: (2023)

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
por: Sperb-Ludwig, Fernanda, et al.
Publicado: (2023)

Anatomical variations of the recurrent laryngeal nerve in Chinese patients: a prospective study of 2,404 patients
por: Shao, Tanglei, et al.
Publicado: (2016)

2404. Widespread emergence of infective endocarditis due to Serratia spp.: Results of a large multicenter cohort
por: Madeline McCrary, L, et al.
Publicado: (2023)

Mucolipidosis II: first report from Saudi Arabia
por: Alfadhel, Majid, et al.
Publicado: (2013)

Unique molecular signature in mucolipidosis type IV microglia
por: Cougnoux, Antony, et al.
Publicado: (2019)

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
por: Scotto Rosato, Anna, et al.
Publicado: (2022)

2404. Telavancin (TLV) and Vancomycin (VAN) Activity and Impact on Mechanical Properties When Incorporated into Orthopedic Bone Cement
por: Bishop, Aaron, et al.
Publicado: (2018)

Guidelines on postoperative magnetic resonance imaging in patients operated for cryptoglandular anal fistula: Experience from 2404 scans
por: Garg, Pankaj, et al.
Publicado: (2021)

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
por: Westermann, Lena Marie, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_frjdgvulmn4hh3lfv29unk20ub