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Lowe Syndrome

Reference work entry

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare X-linked recessive disorder. It was initially recognized in 1952 by Lowe and colleagues who described the triad of congenital cataracts, mental retardation, and generalized aminoaciduria. In 1954, a renal Fanconi syndrome was recognized as being associated with the syndrome (Bickel & Thurshby-Pelnam 1954) and in 1965, an X-linked recessive pattern of inheritance was determined (Richards et al. 1965). Its prevalence is estimated to be several cases per 100,000 males.

Synonyms and Related Disorders

Dent-2 disease; Oculocerebrorenal syndrome

Genetics/Basic Defects

  1. 1.
    Inheritance
    1. a.

      X-linked recessive disorder predominantly affecting males, although several affected females have been reported

       
    2. b.

      New mutations in 31.6% of affected males

       
    3. c.

      Germline mosaicism in 4.5%

       
     
  2. 2.
    The gene involved ( OCRL1)
    1. a.
      Map locus: Xq26.1, based on
      1. i.

        Balanced X-autosome translocations with a break-point in band Xq25-q26 in two unrelated...

Keywords

Turner Syndrome Renal Tubular Acidosis Fanconi Syndrome Congenital Cataract Denature High Performance Liquid Chromatography 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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