Cargando…

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐6‐sulfatase (GALNS) gene. We collected, analyzed, and uniformly summarized all published GALNS gene variants, thus updating the previous m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Mutation Updates
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291100/ https://www.ncbi.nlm.nih.gov/pubmed/34387910 http://dx.doi.org/10.1002/humu.24270

Ejemplares similares

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
por: Tomanin, Rosella, et al.
Publicado: (2018)

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
por: Morrone, Amelia, et al.
Publicado: (2014)

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
por: Solanki, Guirish A., et al.
Publicado: (2013)

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
por: D’Avanzo, Francesca, et al.
Publicado: (2021)

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
por: D’Avanzo, Francesca, et al.
Publicado: (2020)

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
por: Sheth, Harsh, et al.
Publicado: (2022)

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
por: Kampmann, Christoph, et al.
Publicado: (2016)

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
por: Button, Emily L., et al.
Publicado: (2022)

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
por: Kapuganti, Ramani Shyam, et al.
Publicado: (2023)

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation
por: Moreno Giraldo, Lina Johanna, et al.
Publicado: (2018)

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
por: Caciotti, Anna, et al.
Publicado: (2018)

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)
por: Al Kaissi, Ali, et al.
Publicado: (2016)

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
por: Hendriksz, Christian J., et al.
Publicado: (2014)

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
por: Ghafoor, Saima, et al.
Publicado: (2022)

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
por: Lachman, Ralph S., et al.
Publicado: (2014)

Diagnosing mucopolysaccharidosis IVA
por: Wood, Timothy C., et al.
Publicado: (2013)

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model
por: Salvalaio, Marika, et al.
Publicado: (2017)

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
por: Lee, Yi-Hao, et al.
Publicado: (2023)

Will vaccine-derived protective immunity curtail COVID-19 variants in the US?
por: Mancuso, Marina, et al.
Publicado: (2021)

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y
por: Jones, Simon A., et al.
Publicado: (2015)

Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
por: Berger-Groch, Josephine, et al.
Publicado: (2018)

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
por: Zanetti, Alessandra, et al.
Publicado: (2019)

Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene
por: Pajic, Milos D, et al.
Publicado: (2022)

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome
por: DeLong, Kathryn, et al.
Publicado: (2022)

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
por: Pathak, Sagar J., et al.
Publicado: (2018)

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
por: Lin, Hsiang-Yu, et al.
Publicado: (2014)

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
por: Uchida, Noboru, et al.
Publicado: (2022)

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
por: Pintos-Morell, Guillem, et al.
Publicado: (2018)

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
por: Abdelkreem, Elsayed, et al.
Publicado: (2019)

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
por: Gardner, Emily, et al.
Publicado: (2019)

Nephrogenic diabetes insipidus caused by a novel missense variant (p.S127Y) in the AVPR2 gene
por: Maeyama, Takatoshi, et al.
Publicado: (2021)

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease
por: Peeters, Manon H. C. A, et al.
Publicado: (2021)

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
por: Yamada, Chieko, et al.
Publicado: (2022)

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
por: Sohn, Young Bae, et al.
Publicado: (2022)

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020)

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population
por: Li, Jin, et al.
Publicado: (2020)

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020)

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear
por: Miao, Kaisong, et al.
Publicado: (2019)

Mitochondrial tRNA mutations in Chinese children with tic disorders
por: Jiang, Peifang, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_s32cshqn109kocm1j9g7chkpvu