Abstract for presentation at 11th International Congress of Human Genetics

Marinesco-Sjögren syndrome (MSS) maps to chromosome 5q31 and is caused by a mutation in BAP/SIL1 gene in an extended pedigree

  • Prof Abbas Parsian, University of Arkansas for Medical Sciences, United States
  • Dr Mohammad Karim, University of Arkansas for Medical Sciences, United States
  • Azemat Parsian, University of Arkansas for Medical Sciences, United States
  • John Bracey, Hendrix College, United States
  • Dr Mario Cleves, University of Arkansas for Medical Sciences, United States
  • Dr Mohammad Elsayed, Ain Sham University, Egypt
  • Dr Ezzat Elsobky, Ain Sham University, Egypt

    • Marinesco-Sjögren syndrome (MSS [MIM 248800]) is an autosomal recessive multisystem disorder characterized by congenital cataracts, cerebellar ataxia, progressive muscular weakness (chronic myopathy), developmental and mental retardation. Peripheral neuropathy, acute rhabdomyolysis, hypergonadotrophic hypogonadism and skeletal deformities have been described occasionally. We mapped the MSS gene locus to a 6.3 cM region on chromosome 5q31 by homozygosity mapping and to a region of 671 kb by multipoint linkage analysis in an extended pedigree from Egypt. We sequenced BAP/SIL1 gene using genomic DNA from pedigree members and found a homozygous mutation at position 1312 (C to T) in exon 10 that creates a stop codon (Q438X) in all four affected members. The heterozygous mutation was detected in carrier parents but not in 86 neurological normal controls. Our study suggests that the MSS phenotype in this pedigree is due to the mutation detected in BAP/SIL1 gene.

    Conference Organiser - ICMS Pty Ltd