OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

Lozanovski, Vladimir J; Ristoska-Bojkovska, Nadica; Korneti, Petar; Gucev, Zoran; Tasic, Velibor

doi:10.1007/s12519-011-0312-6

Cited by 5 publications

(4 citation statements)

References 22 publications

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“…Dent-2 disease should be differentiated from oculocerebrorenal syndrome of Lowe, which is a multisystem disorder characterized by congenital cataracts, hypotonia, severe neurologic deficits, intellectual disability, and renal Fanconi syndrome [9,10]. Mild intellectual disability and peripheral cataracts may be seen in some patients with Dent-2 disease, therefore one should consider both entities within the spectrum of OCRL mutations.…”

Section: Discussionmentioning

confidence: 99%

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

et al. 2018

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Objective: Febrile proteinuria is functional proteinuria and is seen as a transitory phenomenon during acute febrile illness, mainly viral infections. It is a benign phenomenon and clears promptly with resolution of the infection. Clinical Presentation and Intervention: In this report, we present a patient who was thought to have febrile proteinuria. Persistence of significant proteinuria after resolution of the infection prompted biochemical and genetic workup which led to the diagnosis of Dent-2 disease. Conclusion: We recommend the use of SDS-PAGE (sodium dodecyl sulfate electropheresis) for the detection of low molecular weight proteinuria.

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Section: Discussionmentioning

confidence: 99%

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

et al. 2018

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“…The renal manifestations of Dent disease 1 and 2 are almost the same, while some patients with Dent disease 2 have extrarenal symptoms, which are also typically seen in patients with Lowe syndrome [16]. Consequently, there has been a focused search for clinical markers that will allow differentiation of Dent disease 1 and 2, especially in patients with renal involvement only [6][7][8][9][10][16][17][18]. In this context, one of the most important findings reported in most of these studies [6-10, 16, 17] is the elevation of serum levels of muscle enzymes in patients with Dent disease 2.…”

Section: Discussionmentioning

confidence: 99%

“…However, in patients without any extrarenal manifestations, it is difficult to differentiate Dent disease 1 from Dent disease 2 on the basis of clinical features only without genetic tests. One possible clinical differential point between Dent disease 1 and 2 is the elevation of serum levels of muscle enzymes, especially creatine phosphokinase (CPK) and lactic dehydrogenase (LDH), in patients with Dent disease 2, as has been described at various frequencies in several published studies [6,[8][9][10][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Muscle involvement in Dent disease 2

et al. 2014

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“…Neurologic signs consist of severe neonatal hypotonia, mental retardation, and an increased susceptibility to seizures 3, 7–9 . Some patients present with only one of these various phenotypes at birth, which may delay the appropriate diagnosis of the disease 10 . The classic triad of congenital cataracts, infantile hypotonia with intellectual disability, and proximal renal tubular dysfunction often does not present until later in life 11, 12 .…”

Section: Introductionmentioning

confidence: 99%

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Song

Luo

Alvarado

et al. 2017

Sci Rep

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Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositide 4,5 bisphosphate (PI(4,5)P 2 ). We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2. End stage glaucoma in patient 2 resulted in the enucleation of the eye, which on histology demonstrated corneal keloid, fibrous infiltration of the angle, ectropion uvea, retinal gliosis, and retinal ganglion cell loss. We measured OCRL protein levels in patient keratinocytes and found that Lowe 1 patient cells had significantly reduced OCRL protein as compared to the control keratinocytes. Genotype-phenotype correlation of OCRL1 mutations associated with congenital glaucoma revealed clustering of missense and deletion mutations in the 5-phosphatase domain and the RhoGAP-like domain. In conclusion, we report novel OCRL1 mutations in Lowe syndrome patients and the corresponding histopathologic analysis of one patient's ocular pathology.

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OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

Abstract: Children with Dent phenotype who lack CLCN5 mutation should be tested for OCRL1 mutation. OCRL1 mutations may present with mild clinical features and are not necessarily associated with congenital cataracts.

Cited by 5 publications

References 22 publications

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

Muscle involvement in Dent disease 2

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

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