Publications by authors named "Gabriela Peretz-Amit"
Article Synopsis
- MYH7-related disease (MRD) is the most common hereditary primary cardiomyopathy, linked to about 40% of familial hypertrophic cases, and can also show as skeletal myopathies.
- Pathogenic MYH7 variants lead to various clinical symptoms, making it difficult to predict patient outcomes based on genotype alone.
- This study analyzes six MRD families with unique genotypes, offering new insights for more personalized treatment strategies and genetic counseling.
The term isolated ectopia lentis (EL; subluxation or dislocation of the human crystalline lens) is applied to patients with EL, without skeletal features and in the absence of aortic root dilatation. To date, the only gene shown to cause autosomal-recessive isolated EL is ADAMTSL4. Here we report a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral EL.
View Article and Find Full Text PDFRenal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome.
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