title: Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.
abstract: OBJECTIVE
  The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjögren syndrome born to consanguineous parents.
  
  
  METHODS
  The child presented with developmental delay, ataxia, bilateral cataracts, and dysmorphic craniofacial features, along with cerebellar atrophy. Sequencing of the SIL1 gene revealed a novel homozygous large indel mutation that was predicted to abrogate part of the 5' untranslated region (UTR) and the first 30 amino acids of the protein.
  
  
  CONCLUSIONS
  This was a case of mutation in SIL1 that affected the 5' UTR, translation initiation site and the endoplasmic reticulum-targeting signal sequence. Further studies will be needed on the functional delineation of the mutation.
authors.affiliation: Centre for Arab Genomic Studies, Dubai, UAE.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nair
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
authors.forename: Madiha
authors.initials: M
authors.lastname: Mohamed
authors.forename: Nafisa
authors.initials: N
authors.lastname: Tawfiq
authors.forename: Mahmoud Taleb
authors.initials: MT
authors.lastname: Al-Ali
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D001921:Brain / Q000473:pathology; D002648:Child; D003241:Consanguinity; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017421:Sequence Analysis; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D014479:United Arab Emirates
chemical_list: D020121:5' Untranslated Regions