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

Vykuntaraju K Gowda; Varun M Srinivasan; Naveen Benakappa; Asha Benakappa

doi:10.1007/s12098-016-2286-9

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

Indian J Pediatr. 2017 May;84(5):403-404. doi: 10.1007/s12098-016-2286-9. Epub 2017 Jan 31.

Authors

Vykuntaraju K Gowda^{1

2}, Varun M Srinivasan³, Naveen Benakappa³, Asha Benakappa³

Affiliations

¹ Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India. drknvraju@hotmail.com.
² Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri Choultry, Vijayanagar, Bangalore, Karnataka, 560104, India. drknvraju@hotmail.com.
³ Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

PMID: 28138907
DOI: 10.1007/s12098-016-2286-9

Abstract

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.

Keywords: Ataxia; Cherry-red spot; Myoclonus; Neuraminidase; Sialidosis.

Publication types

Case Reports

MeSH terms

Child
Consanguinity
Homozygote
Humans
Male
Mucolipidoses / genetics*
Mutation, Missense / genetics*
Neuraminidase / genetics*

Substances

NEU1 protein, human
Neuraminidase

Supplementary concepts

Neuraminidase 1 deficiency