Publications by authors named "I Lerer"
Article Synopsis
- - AOA2 is a rare disease in adolescents, marked by symptoms like brain atrophy, nerve damage, and high alpha-fetoprotein levels, caused by mutations in the SETX gene related to DNA repair and RNA function.
- - Gene sequencing in two families identified new mutations in the SETX gene, which were linked to increased chromosome damage and higher sensitivity to oxidative stress, showcasing the impact of these mutations on cellular health.
- - The findings suggest a broader range of clinical symptoms for AOA2 and hint at new therapeutic strategies due to the discovery of a potential "poison exon" in the SETX gene, which might help in creating customized treatments.
is associated with recessive primary familial brain calcification.
Ann Clin Transl Neurol
January 2019
Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease.
Methods: Whole exome sequencing and Sanger-based segregation analysis were used to identify possible disease causing mutations. Mutation pathogenicity was validated by structural protein modeling.
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Invest Ophthalmol Vis Sci
February 2018
Purpose: Usher syndrome (USH) is the most common cause for deaf-blindness. It is genetically and clinically heterogeneous and prevalent in populations with high consanguinity rate. We aim to characterize the set of genes and mutations that cause USH in the Israeli and Palestinian populations.
View Article and Find Full Text PDFObjectives: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established.
View Article and Find Full Text PDFHereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a noncoding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer.
View Article and Find Full Text PDF