Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny

Dai, Chengjun; Wang, Liying; Li, Youli; Zheng, Zhichao; Qian, Jieqi; Wang, Chaoban; Liu, Zishuo; Shan, Xiaoou

doi:10.1080/08977194.2019.1669589

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…3 As seen in our patient, growth hormone deficiency with marked bone age delay has been previously reported. 10,11 Although some benefit with rGH therapy has been described irrespective of the growth hormone status in children with LS, additional data are required for any conclusive evidence. 12 Cryptorchidism is seen in approximately one-third of children with LS; however, most children progress through puberty normally.…”

Section: Discussionmentioning

confidence: 99%

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene

Parikh

Gadgil

2021

Journal of Child Science

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Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.

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Section: Discussionmentioning

confidence: 99%

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene

Parikh

Gadgil

2021

Journal of Child Science

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“…To date, 30 OCRL mutations have been identified in Chinese patients with Lowe syndrome, including the two patients identified here (Table 2 ) [ 10 – 26 ]. Frameshift, splicing, or nonsense mutations leading to truncated proteins account for 67% of these mutations, missense mutations account for 27%, and genomic deletions account for 6%.…”

Section: Discussionmentioning

confidence: 99%

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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Short Stature due to Bioinactive Growth Hormone (Kowarski Syndrome)

Karaoglan

2023

Endocrine Practice

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Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny

Cited by 3 publications

References 17 publications

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene

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

Short Stature due to Bioinactive Growth Hormone (Kowarski Syndrome)

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