Article

Novel homozygous HEXB mutation identified in a consanguineous Iranian pedigree with Sandhoff disease

2020-01-23

Abstract excerpt

<h4>Background: </h4> Sandhoff disease is a rare neurodegenerative and autosomal recessive disorder, characterized by a defect in ganglioside metabolism. It is caused by mutations in the HEXB gene for the β-subunit of β-N-acetyl hexosaminidase. Results In the present study, an Iranian 14- month -old girl with an 8- month history of unsteady walking and involuntary movements is described. Biochemical testing showed...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b653a007-c6d2-5dfa-ad81-9648b92eb214
DOI: 10.21203/rs.2.21720/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel homozygous HEXB mutation identified in a consanguineous Iranian pedigree with Sandhoff diseaseDOI 10.21203/rs.2.21720/v1Read

P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.Semantic proximity Read

Comprehensive Analysis of <i>HEXB</i> Protein Reveal Forty Two Novel nsSNPs That May Lead to Sandhoff disease (SD) Using BioinformaticsSemantic proximity Read

Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Semantic proximity Read

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.Semantic proximity Read

Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.Semantic proximity Read

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Semantic proximity Read

A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.Semantic proximity Read

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.Semantic proximity Read

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB geneSemantic proximity Read

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].Semantic proximity Read

Thirty two novel nsSNPs May effect on <i>HEXA</i> protein Leading to Tay-Sachs disease (TSD) Using a Computational ApproachSemantic proximity Read

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.Semantic proximity Read