alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...

Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive) have already been found. The 10 genes responsible for the autosomal recessive forms, which account for more than 90% of the cases, had their product identified. This review will focus on the most recent data on autosomal recessive-limb-girdle muscular dystrophy and on our own experience of more t...

Keywords Disease name and synonyms Definition Classification Differential diagnosis Prevalence Clinical description Management including treatment Diagnostic methods Etiology Genetic counseling Antenatal diagnosis References Abstract Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spastici...

Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...

Segregation analysis on 228 family pedigrees collected from a Papua New Guinean population provided data that strongly supported a previous report of an autosomal recessive pattern of inheritance of a susceptibility to tinea imbricata. The frequency of the susceptibility gene within the population studied was found to be 0.49 +/- 0.04, calculated on the assumption of an autosomal recessive mode...

it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.

OBJECTIVES To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenotype. METHODS In an Algerian patient with autosomal recessive demyelinating CMT mapped to chromosome 5q23-q33 the same unique nerve pathology was es...