Inositol polyphosphate 5-phosphatase OCRL: Difference between revisions
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Lowe syndrome is inherited in an X-linked manner. About two-thirds of cases are transmitted by maternal carriers. Affected males are not known to reproduce. Female carriers show heterozygous female phenotype, which might indicate the need for genetic counseling. The remaining one third (approximately) is attributed to a de novo variant. There is a high risk (4,5%) of germline mosaicism in Lowe syndrome families. If OCRL pathogenic variant has been identified in a family member, prenatal genetic testing can be performed. Unfortunately, it can not say anything about the severity of the disease. <ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/><ref name="Evidence"/> | Lowe syndrome is inherited in an X-linked manner. About two-thirds of cases are transmitted by maternal carriers. Affected males are not known to reproduce. Female carriers show heterozygous female phenotype, which might indicate the need for genetic counseling. The remaining one third (approximately) is attributed to a de novo variant. There is a high risk (4,5%) of germline mosaicism in Lowe syndrome families. If OCRL pathogenic variant has been identified in a family member, prenatal genetic testing can be performed. Unfortunately, it can not say anything about the severity of the disease. <ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/><ref name="Evidence"/> | ||
Treatment is only symptomatic. Patients usually require more than one medical specialist to manage various clinical problems.<ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/><ref name="Evidence"/ | Treatment is only symptomatic. Patients usually require more than one medical specialist to manage various clinical problems.<ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/><ref name="Evidence"/> Regular surveillance by many specialists is also needed in many fields for the whole lifetime. <ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/> | ||
== Structural highlights == | == Structural highlights == | ||
