Publisher: Kenneth Kee
Publication Date: June 15, 2017
Binding: Kobo eBook
Lowe syndrome (oculocerebrorenal syndrome) is characterized by:
1. Vision disorders such as clouding of the lenses of the eyes (cataracts) that are present at birth,
2. Kidney disorders that normally develop in the first year of life, and
3. Brain abnormalities that are linked with intellectual disabilities.
Lowe syndrome is inherited as an X-linked genetic disorder.
Lowe syndrome is a rare genetic disorder that happens almost specially in males.
The frequency is evaluated to be between 1 and 10 males per 1,000,000 people.
It has been identified in most cultures around the world and seems to have the same frequency in all populations.
Because Lowe Syndrome is an X-linked syndrome, the majority of affected persons are males.
There have been a few cases of females diagnosed with Lowe Syndrome.
In these cases, the female typically has one inactive X-chromosome and the active X-chromosome has the mutation for Lowe Syndrome.
Lowe syndrome (the oculocerebrorenal syndrome OCR) is a multiple system disorder that is typically featured by anomalies involving the eye, the nervous system and the kidney.
It is an infrequent, pan-ethnic, X-linked disease.
Bilateral cataract and severe hypo-tonia are present at birth.
In the later weeks or months of the infant, a proximal renal tubulopathy (Fanconi-type) is apparent and the ocular feature may be complicated by glaucoma and cheloids.
Psychomotor retardation is evident in childhood, while behavioral disorders are present and renal complications occur in adolescence.
The mutation of the gene OCRL1 localized at Xq26.1 is accountable for the disease
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase INP51 controls the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network
Both enzymatic and molecular testing is available for confirmation of the diagnosis and for prenatal detection of the ...