Marinesco-Sjo ̈ gren Syndrome (MSS) is an autosomal recessive disorder, characterized by cataracts, ataxia, and growth and mental retarda- tion. Chronic myopathy is a common feature, and peripheral neuropathy has also been described. In our previous study (4), we hypothesized that both MSS and chylomicron retention disease (CRMD) found in the two Calabrian brothers could be because of defects in a gene crucial to the assembly or secretion of the chylomicron particle, leading to a very low serum concentration of vitamin E. The present results, however, demonstrate that CMRD and MSS observed in our patients are distinct diseases because of defects in two different genes, SARA2 and SIL1, respectively, which map about 5.1 cM apart from each other.
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
TORRONI, ANTONIO;
2007-01-01
Abstract
Marinesco-Sjo ̈ gren Syndrome (MSS) is an autosomal recessive disorder, characterized by cataracts, ataxia, and growth and mental retarda- tion. Chronic myopathy is a common feature, and peripheral neuropathy has also been described. In our previous study (4), we hypothesized that both MSS and chylomicron retention disease (CRMD) found in the two Calabrian brothers could be because of defects in a gene crucial to the assembly or secretion of the chylomicron particle, leading to a very low serum concentration of vitamin E. The present results, however, demonstrate that CMRD and MSS observed in our patients are distinct diseases because of defects in two different genes, SARA2 and SIL1, respectively, which map about 5.1 cM apart from each other.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
