Dent’s disease (MIM #300009) is a rare X-linked disorder characterized by various degrees of proximal tubular (PT) dysfunction, nephrocalcinosis and nephrolithiasis. The exact prevalence is unknown. The disease was first reported by Dent and Friedman, who described two males with vitamin D resistant rickets, hypercalciuria and low molecular weight proteinuria (LMWP) (Dent & Friedman, 1964). Bas...

GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal ab...

The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest molecular developments achieved in the other genomic instability syndromes, the potential functions of the X c...

primary immunodeficiencies (pid) are a group of disorders, characterized by an unusual susceptibility to infections. delay in diagnosis results in increased morbidity and mortality in affected patients. the purpose of this study was to determine the mortality rate of iranian immunodeficient patients referred to children medical center hospital affiliated to tehran university of medical sciences...

INTRODUCTION Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. CASE PRESENTATION Here, we report a 4 ½ year-old female with classical 45,X Turner syn...

The effect of weak selection driving genome evolution has attracted much attention in the last decade, but the task of measuring the strength of such selection is particularly difficult. A useful approach is to contrast the evolution of X-linked and autosomal genes in two closely related species in a whole-genome analysis. If the fitness effect of mutations is recessive, X-linked genes should e...

cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. it may be autosomal recessive, autosomal dominant, x linked or acquired. acquired cutis laxa has developed after a febrile illness, inflammatory skin disease such a lupus eryhymatosis or erythema multiform, amyloidosis, hypersensitivity reaction to penicillin and in infants born from women who were...

X-linked adrenoleukodystrophy is an X-linked recessive disorder affecting approximately 1 in 21,000 males, and is estimated to be the cause of adrenal insufficiency in approximately 35% of patients with idiopathic Addison's disease. The disease is caused by defective beta-oxidation of fatty acids in peroxisomes that leads to elevated serum concentrations of very-long-chain saturated fatty acids...

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...