Triple primary sarcoma in Werner syndrome with a novel mutation

Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family.   Case Report: The...

Identification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.

Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...

Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.

BACKGROUND AND PURPOSE Laminopathies arise through mutations in genes encoding Lamin A/C (LMNA) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders. SUMMARY OF CASE We repo...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Werner syndrome with psychosis.

Werner syndrome is a premature senility syndrome that manifests a variety of ageing symptoms starting from puberty. Approximately 10% of patients demonstrate low IQ. Reports regarding psychotic symptoms in Werner syndrome are rare. Here we report a case of Werner syndrome with flourishing psychotic symptoms. The patient was a 55-year-old unmarried woman. She was referred due to psychomotor exci...