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
X-linked recessive disorder predominantly affecting males, although several affected females have been reported
New mutations in 31.6% of affected males
Germline mosaicism in 4.5%
The gene involved ( OCRL1)
Map locus: Xq26.1, based on
Balanced X-autosome translocations with a break-point in band Xq25-q26 in two unrelated...
KeywordsTurner Syndrome Renal Tubular Acidosis Fanconi Syndrome Congenital Cataract Denature High Performance Liquid Chromatography
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