PURPOSE All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD. The clinical features associated with this mutation were describ...

hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. we report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. neurological examination showed that he had proximal lower limbs weakness with a positive gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle wa...

BACKGROUND Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~10%) or FANCD2 (3-6%) genes. We have already reported the FANCA variant c.190-256_283+1680del2040dupC as a founder mutation among Macedonia...