Article
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Human molecular genetics - 15 Jan 2014
Boccuto Luigi, Aoki Kazuhiro, Flanagan-Steet Heather, Chen Chin-Fu, Fan Xiang, Bartel Frank, Petukh Marharyta, Pittman Ayla, Saul Robert, Chaubey Alka, Alexov Emil, Tiemeyer Michael, Steet Richard, Schwartz Charles E
Abstract excerpt
'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...
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