Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome

Gao, Yan; Jiang, Fang; Ou, Zhiying

doi:10.1007/s12519-016-0017-y

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…Systemic disorders most commonly associated with congenital cataracts are congenital heart disease and nervous system disease. Other congenital cataract associated syndromes, such as Hallermann‐Streiff‐Francois syndrome (Pasyanthi et al, ), Wolfram syndrome (Morikawa et al, ), congenital cataract facial dysmorphism neuropathy syndrome (Masters et al, ), Nance‐Horan syndrome (NHS) (Tian et al, ), and Lowe syndrome (Gao et al, ) have also been reported. Ocular manifestations can result from inherited metabolic disorders (Rajappa et al, ), including galactosemia (Lee et al, ), Wilson disease, hypocalcemia, hypo/hyperglycemia, and Lowe syndrome.…”

Section: Prevalence and Epidemiological Characteristics Of Congenitalmentioning

confidence: 99%

Screening, genetics, risk factors, and treatment of neonatal cataracts

Xia

Wang

et al. 2017

Birth Defects Research

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Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children. For example, mutations in lens crystallins and membrane/cytoskeletal components that commonly underlie genetically inherited cataracts are now known. However, many questions still remain regarding the causes, progression, and pathology of neonatal cataracts. Further investigations are also required to improve diagnostic criteria for determining the timing of appropriate interventions, such as the implantation of intraocular lenses and postoperative management strategies, to ensure safety and predictable visual outcomes for children. Birth Defects Research 109:734-743, 2017. © 2017 Wiley Periodicals, Inc.

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Section: Prevalence and Epidemiological Characteristics Of Congenitalmentioning

confidence: 99%

Screening, genetics, risk factors, and treatment of neonatal cataracts

Xia

Wang

et al. 2017

Birth Defects Research

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Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Deng

Chen

et al. 2021

BMC Med Genomics

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Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at chromosome Xq26.1), which encodes an inositol polyphosphate 5-phosphatase. Case presentation We identified two novel OCRL mutations in two unrelated Chinese boys, each with a severe phenotype of Lowe syndrome. A novel de novo deletion (hemizygous c.659_662delAGGG, p.E220Vfs*29) was present in patient 1 and a novel splicing mutation (hemizygous c.2257-2A > T) that was maternally inherited was present in patient 2. A renal biopsy in patient 2 indicated mild mesangial proliferative glomerulonephritis, mild focal mononuclear cells infiltration, and interstitial focal fibrosis. Moreover, renal expression of OCRL-1 protein in patient 2 was significantly reduced compared to a control patient with thin basement membrane disease. Conclusions This study reports two novel OCRL variants associated with severe ocular and neurologic deficiency, despite only mild renal dysfunction. Based on our two patients and a literature review, the genotype–phenotype correlation of OCRL mutations with this severe phenotype of Lowe syndrome suggest a possible clustering of missense, deletion, and nonsense mutations in the 5-phosphatase domain and Rho-GAP domain in the Chinese population.

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Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome

Abstract: Two novel mutations of the OCRL gene, c.2187insG and c.1366C>T, were found in Chinese patients with Lowe syndrome, which will provide new clues for the etiology of Lowe syndrome and could be beneficial to genetic diagnosis of the condition.

Cited by 2 publications

References 13 publications

Screening, genetics, risk factors, and treatment of neonatal cataracts

Screening, genetics, risk factors, and treatment of neonatal cataracts

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

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