Inositol polyphosphate 5-phosphatase OCRL: Difference between revisions
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== Oculocerebrorenal syndrome of Lowe == | == Oculocerebrorenal syndrome of Lowe == | ||
Lowe syndrome, formally called oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe or OCRL, is an X-linked multisystemic disorder mainly involving eyes, nervous system (both the central and the peripheral) and kidneys caused by mutations in OCRL1 protein. The syndrome is quite rare, its prevalence is 1 in 500 000 in the general population (based on the observations of the American Lowe Syndrome Association and the Italian Association of Lowe syndrome). Almost all of the patients are male. The syndrome is believed to occur worldwide as there are documented cases in America, Europe, Australia, Japan and India.<ref name="Lowe syndrome">PMID: 20301653</ref><ref name="Oculocerebrorenal">PMID: 27011217</ref> | Lowe syndrome, formally called oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe or OCRL, is an X-linked multisystemic disorder mainly involving eyes, nervous system (both the central and the peripheral) and kidneys caused by mutations in OCRL1 protein. The syndrome is quite rare, its prevalence is 1 in 500 000 in the general population (based on the observations of the American Lowe Syndrome Association and the Italian Association of Lowe syndrome). Almost all of the patients are male. The syndrome is believed to occur worldwide as there are documented cases in America, Europe, Australia, Japan and India.<ref name="Lowe syndrome">PMID: 20301653</ref><ref name="Oculocerebrorenal">PMID: 27011217</ref> | ||
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== Mutations in OCRL1 == | == Mutations in OCRL1 == | ||
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Given the important functions of OCRL1 and the amount of its interaction partners it is not surprising that point mutations can cause the serious OCRL. Although, some mutations cause only a mild type of OCRL which is called Dent-2 disease.<ref name="com">PMID: 31967472</ref> This diseases is caused by different mutations in all domains of OCRL1 just like OCRL.<ref name="china">PMID: 31674016</ref><raf name="com"/><ref name="FH">PMID: 21666675</ref> However, it is characterized solely by heterogeneous kidney malfunctions.<ref name="dent">PMID: 32860533</ref> Even though, certain continuum between the two diseases has been suggested it is unclear what causes the different symptoms of various mutations.<ref name="continum">PMID: 21031565</ref> As to the OCRL1 mutations causing OCRL so far only two have been studied closely. It is the substitution of F by V at the position 668 (F668V) and the substitution of N by K at the position 591 (N591K).<ref name="main"/><ref name="com"/> | Given the important functions of OCRL1 and the amount of its interaction partners it is not surprising that point mutations can cause the serious OCRL. Although, some mutations cause only a mild type of OCRL which is called Dent-2 disease.<ref name="com">PMID: 31967472</ref> This diseases is caused by different mutations in all domains of OCRL1 just like OCRL.<ref name="china">PMID: 31674016</ref><raf name="com"/><ref name="FH">PMID: 21666675</ref> However, it is characterized solely by heterogeneous kidney malfunctions.<ref name="dent">PMID: 32860533</ref> Even though, certain continuum between the two diseases has been suggested it is unclear what causes the different symptoms of various mutations.<ref name="continum">PMID: 21031565</ref> As to the OCRL1 mutations causing OCRL so far only two have been studied closely. It is the substitution of F by V at the position 668 (F668V) and the substitution of N by K at the position 591 (N591K).<ref name="main"/><ref name="com"/> | ||