Author/Authors :
nair, pratibha dubai health authority - centre for arab genomic studies, latifa hospital, United Arab Emirates , hamzeh, abdul rezzak dubai health authority - centre for arab genomic studies, latifa hospital, United Arab Emirates , mohamed, madiha dubai health authority - latifa hospital - department of pediatrics, United Arab Emirates , tawfiq, nafisa dubai health authority - latifa hospital - department of pediatrics, United Arab Emirates , al-ali, mahmoud taleb dubai health authority - centre for arab genomic studies, latifa hospital, United Arab Emirates , bastaki, fatma dubai health authority - latifa hospital - department of pediatrics, United Arab Emirates
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. Clinical Presentation and Intervention: 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. Conclusion: 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.
