A Novel Intronic OCRL1 Variant Causing Lowe Syndrome with an Atypical Phenotype Mimicking Mucopolysaccharidosis.

Authors

K Y Manisha, Alfiya Fasaludeen, Ramshekhar N Menon, K Amarkrishna, M Reshma Prasad, Soumya Sundaram

Published in

Annals of Indian Academy of Neurology. Nov 04, 2026. Epub Nov 04, 2026.

Abstract

Lowe syndrome is a rare X-linked recessive multisystem disorder caused by pathogenic OCRL1 variants. We describe a 19-month-old child with global developmental delay, bilateral congenital cataracts, glaucoma, and hypotonia but without clinically apparent renal involvement at last follow-up. Brain and spine magnetic resonance imaging revealed scaphocephaly, a J-shaped sella, peritrigonal white-matter abnormalities, and a soft-tissue lesion causing compression at the craniovertebral junction, suggestive of mucopolysaccharidosis. Whole-exome sequencing (WES) identified a novel pathogenic hemizygous splice-site variant, c. 1880-2A > G, in OCRL1 . This case highlights the atypical phenotype of Lowe syndrome, which mimics mucopolysaccharidosis, and the diagnostic utility of WES in such presentations.

PMID:
43002166
Bibliographic data and abstract were imported from PubMed on 09 Nov 2026.

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