Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation

Abstract

Severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous macular rash might be associated features of congenital sialidosis.

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

“…First, only twelve cases of sialidosis with intrauterine onset have so far been described (summarized in Sergi et al 1999;Buchholz et al 2001). If nationality was reported, the patients were from parents of Japanese, Moroccan, German, Syrian, Turkish, Hispanic-American, Italian, and Ashkenazi Jewish ancestry.…”

“…The human cDNA coding for the lysosomal neuraminidase has been described by Bonten et al (1996) and Pshezhetsky et al (1997), and mutations in this neu1 gene on chromosome 6q21 have been shown to be responsible for determining the clinical symptoms of sialidosis (Bonten et al 1996(Bonten et al , 2000Pshezhetsky et al 1997;Lukong et al 2000Lukong et al , 2001Naganawa et al 2000;Buchholz et al 2001). We describe a Turkish family harboring a novel mutation in the lysosomal neuraminidase gene, a distinct histopathologic fetal phenotype, and placental studies.…”

Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient

“…To date, 23 genetic alterations were detected in the lysosomal neuraminidase gene of sialidosis patients. They all were observed throughout the entire coding region without any indications for a hot spot region [11,15–19]. Recent studies using 3D modeling of the mutated sequences were helpful in understanding the potential influence of amino acid substitutions on tertiary protein structure.…”

“…Since the cloning of the neu1 mRNA [11,15], several studies have reported the identification of genetic alterations in neu1 of unrelated sialidosis patients. The majority of reported mutations consist of missense mutation (15 cases), followed by nonsense mutations (four cases), two insertions and two deletions [11,15–19]. All mutations are exonic and distributed over the entire coding region of neu1 .…”

Disorders of Glycoprotein Degradation

“…12 Because Rh incompatibility is largely being prevented, it is no longer the most common cause of hydrops fetalis. Affected neonates are born prematurely and have the clinical appearance of hydrops fetalis.…”