2013
DOI: 10.1093/hmg/ddt434
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A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Abstract: 'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. High-density SNP array analysis performed on siblings first described with this syndrome detected four shared regions of loss of heterozygosity (LOH). Whole-exome sequencing narrowed the candidate region to chromosome 2p11.2. Sanger sequencing confirmed a homozygous c.994G>A transition (p.E332K) in the ST3… Show more

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Cited by 155 publications
(161 citation statements)
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“…Congenital, refractory early onset seizures accompanied by profound psychomotor delay were traced to mutations in ST3GAL5 (Fig. 1), which codes for GM3 synthase, a sialyltransferase that acts early in the complex ganglioside biosynthetic pathway (Simpson et al, 2004;Fragaki et al, 2013;Boccuto et al, 2014). Hereditary spastic paraplegia associated with intellectual disability and occasional seizure susceptibility was traced to B4GALNT1, which codes for GM2/GD2 synthase, a subsequent step in ganglioside biosynthesis (Wilkinson et al, 2005;Boukhris et al, 2013;Harlalka et al, 2013).…”
Section: Discussionmentioning
confidence: 99%
“…Congenital, refractory early onset seizures accompanied by profound psychomotor delay were traced to mutations in ST3GAL5 (Fig. 1), which codes for GM3 synthase, a sialyltransferase that acts early in the complex ganglioside biosynthetic pathway (Simpson et al, 2004;Fragaki et al, 2013;Boccuto et al, 2014). Hereditary spastic paraplegia associated with intellectual disability and occasional seizure susceptibility was traced to B4GALNT1, which codes for GM2/GD2 synthase, a subsequent step in ganglioside biosynthesis (Wilkinson et al, 2005;Boukhris et al, 2013;Harlalka et al, 2013).…”
Section: Discussionmentioning
confidence: 99%
“…The protein from the nonsense mutation, c.862C>T, was truncated between L-and S-motifs, which has been reported in Old Order Amish patients [Simpson et al, 2004;Fragaki et al, 2013;Wang et al, 2013]. The other mutation, c.994G>A in an African-American family, was within the S-motif, which might result in disturbed function of S-motif, interacting with the lactosylceramide acceptor and a sugar donor [Boccuto et al, 2014]. Compared with the cases with the two mutations reported previously, the two sisters in the present study had neither epilepsy nor blindness.…”
Section: Discussionmentioning
confidence: 83%
“…This condition resulting from the impaired ganglioside biosynthesis pathway can disturb neurodevelopment, which clinically manifest with severe developmental delay/intellectual disability and epilepsy during infancy [Simpson et al, 2004;Fragaki et al, 2013;Wang et al, 2013;Boccuto et al, 2014]. The disease may also present with irritability during early infancy, failure to thrive, cutaneous dyspigmentation, blindness, and deafness [Simpson et al, 2004;Farukhi et al, 2006;Inokuchi, 2011;Fragaki et al, 2013;Wang et al, 2013;Boccuto et al, 2014].…”
Section: Discussionmentioning
confidence: 99%
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