Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene

被引：0

作者：

Vykuntaraju K. Gowda

Varun M. Srinivasan

Naveen Benakappa

Asha Benakappa

机构：

[1] Indira Gandhi Institute of Child Health,Department of Pediatrics

[2] Bangalore Child Neurology and Rehabilitation Center,undefined

来源：

The Indian Journal of Pediatrics | 2017年 / 84卷

关键词：

Ataxia; Cherry-red spot; Myoclonus; Neuraminidase; Sialidosis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.

引用

页码：403 / 404

页数：1

共 50 条

[31] Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child
Maroofian, Reza
Schuele, Isabel
Najafi, Maryam
Bakey, Zeineb
Rad, Abolfazi
Antony, Dinu
Habibi, Haleh
Schmidts, Miriam
KIDNEY INTERNATIONAL REPORTS, 2018, 3 (06): : 1454 - 1463
[32] Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case
Yavuz, Ebru Nur Vanli
Altiokka, Gunes
Matur, Zeliha
Muona, Mikko
Bebek, Nerses
Gurses, Candan
Lehesjoki, Anna Elina
Gokyigit, Aysen
Baykan, Betul
TURKISH JOURNAL OF NEUROLOGY, 2016, 22 (02) : 84 - 87
[33] Novel Nile tilapia Neu1 sialidases: Molecular cloning and biochemical characterization of the sialidases Neu1a and Neu1b
Honda, Akinobu
Chigwechokha, Petros Kingstone
Takase, Ryo
Hayasaka, Oki
Fujimura, Koji
Kotani, Tomonari
Komatsu, Masaharu
Shiozaki, Kazuhiro
GENE, 2020, 742
[34] Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression
Pattison, S
Pankarican, M
Rupar, CA
Graham, FL
Igdoura, SA
HUMAN MUTATION, 2004, 23 (01) : 32 - 39
[35] Neuraminidase-1 mediates skeletal muscle regeneration
Neves, Juliana de Carvalho
Rizzato, Vanessa Rodrigues
Fappi, Alan
Garcia, Mariana Miranda
Chadi, Gerson
van de Vlekkert, Diantha
d'Azzo, Alessandra
Zanoteli, Edmar
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2015, 1852 (09): : 1755 - 1764
[36] Structure of the immunoregulatory sialidase NEU1
Gorelik, Alexei
Illes, Katalin
Mazhab-Jafari, Mohammad T.
Nagar, Bhushan
SCIENCE ADVANCES, 2023, 9 (20)
[37] Expanding sialidosis spectrum by genome-wide screening NEU1 mutations in adult-onset myoclonus
Canafoglia, Laura
Robbiano, Angela
Pareyson, Davide
Panzica, Ferruccio
Nanetti, Lorenzo
Giovagnoli, Anna Rita
Venerando, Anna
Gellera, Cinzia
Franceschetti, Silvana
Zara, Federico
NEUROLOGY, 2014, 82 (22) : 2003 - 2006
[38] The role of sialidase Neu1 in respiratory diseases
Mei, Shiran
Li, Dingding
Wang, Aoyi
Zhu, Guoxue
Zhou, Bingwen
Li, Nian
Qin, Yi
Zhang, Yanliang
Jiang, Shujun
RESPIRATORY RESEARCH, 2024, 25 (01)
[39] The role of neuraminidase 1 (NEU1) in cytokine release by primary mouse mesangial cells and disease outcomes in murine lupus nephritis
Rodgers, Jessalyn
Sundararaj, Kamala
Bruner, Evelyn
Wolf, Bethany
Nowling, Tamara K.
AUTOIMMUNITY, 2021, 54 (03) : 163 - 175
[40] The role of sialidase Neu1 in respiratory diseases
Shiran Mei
Dingding Li
Aoyi Wang
Guoxue Zhu
Bingwen Zhou
Nian Li
Yi Qin
Yanliang Zhang
Shujun Jiang
Respiratory Research, 25

← 1 2 3 4 5 →