Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene

Kularatnam, Grace Angeline Malarnangai; Subasinghe, Vindya; Warawitage, Dilanthi Hewa; Jayasena, K.; Recker, Florian; Jasinge, Eresha; Waidyanatha, Samantha; Ludwig, Michael

doi:10.4038/sljch.v46i3.8334

Cited by 1 publication

(2 citation statements)

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“…As already discussed, patients with OCRL syndrome typically present in infancy with congenital cataracts, growth failure and intellectual disability [4]. Dense congenital bilateral cataracts are the hallmark of Löwe syndrome and are present at birth [2].…”

Section: Discussionmentioning

confidence: 93%

“…Pathogenic variants in the OCRL gene on chromosome Xq25-26 cause this disorder. The OCRL gene codes for the protein OCRL-1, which is a phosphatase enzyme [4]. This enzyme is involved in cell transport and maintaining the integrity of the cell by regulating the actin cytoskeleton [3], and its impaired function may potentially affect many different organs.…”

Section: Introductionmentioning

confidence: 99%

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Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome

et al. 2023

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Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies. Case presentation: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the OCRL gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented. Conclusion: The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients.

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Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%