Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...

Peutz-Jeghers syndrome (PJS) is an extremely rare autosomal dominant hereditary disease characterized by the growth of hamartomatous polyps in gastrointestinal tract, mucocutaneous pigmented macules and increased risk malignant neoplasms various localizations. In most cases development PJS associated with presence a mutation STK11 gene, but not all patients have this mutation. This review prese...

The translocation between chromosomes 15 and 17 t(15;17) at the promyelocytic leukemia (PML) retinoic acid receptor alpha (RARA) is thought to be specific for acute (APL). We present a case of with evidence by banding karyotype, FISH, PCR, rare microgranular promyelocytes significant basophilia detected on marrow aspirate, an ETV6 missense mutation molecular diagnostic testing. patient underwen...

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

Cystic fibrosis is a life-shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF-causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations.

Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type transmission and heterogeneous clinical picture, which depends on the gene mutation. The leptomeningeal form is rare phenotypic variant predominant involvement brain spinal cord meninges, as well cortical meningeal vessels. main manifestations this phenotype include cephalalgic syndrome, episodes...