Novel OCRL mutations in Chinese children with Lowe syndrome

Yan-Qin Zhang, Fang Wang, Jie Ding, Hui Yan, Yan-Ling Yang

Beijing, China

Author Affiliations: Department of Pediatrics, Peking University First Hospital, Beijing, China (Zhang YQ, Wang F, Ding J, Yan H, Yang YL)

Corresponding Author: Ding J, MD, PhD, Department of Pediatrics, Peking University First Hospital, 100034 Beijing, China (Tel: 86-010 -83572168; Fax: 86-010-66530532; Email: djnc_5855@126.com)

doi: 10.1007/s12519-013-0406-4

Background: Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an inositol polyphosphate-5-phosphatase. The disease is clinically characterized by congenital cataracts, psychomotor retardation, and proximal tubulopathy.

Methods: We retrospectively reviewed three unrelated Chinese patients with Lowe syndrome, clinically diagnosed by the abnormalities of eyes, nervous system, and kidneys. Genetic analysis of the OCRL gene was done for the three patients as well as their family members.

Results: Three OCRL gene mutations were detected in our study. Two of the mutations, g.1897delT in exon 18 (patient 1) and g.1470delG in exon 15 (patient 2), were novel. A missense mutation (p.Y513C) in exon 15, which had been reported previously, was found in patient 3. The mothers of all patients were heterozygous carriers of the respective mutations.

Conclusions: Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified.

Key words: cataract; Dent disease 2; Lowe syndrome; mutations; OCRL

World J Pediatr 2013;9(1):53-57