© Kamla-Raj 2002                                                                        Int J Hum Genet, 2(4): 243-249 (2002)

Lowe syndrome (Oculocerebrorenal syndrome of Lowe): A case report of two brothers from India

Arvind Rup Singh¹, Jai Rup Singh²*, Harshinder Kaur³, Gurpal Singh Sachdeva⁴,

Anupam Kaur² and Amrita Darshan Singh²

1. A-7, Guru Nanak Dev University Campus, Amritsar, India

2. Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India

3. Department of Paediatrics, Govt Medical College, Patiala, India

4. Department of Medicine, Govt Medical College, Patiala, India

Key Words Lowe syndrome; OCRL

Abstract  Lowe syndrome (oculo-cerebro-renal syndrome of Lowe) is a rare X-linked recessive disorder characterized by the involvement of eyes, brain and kidneys. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase, which is required for the intracellular trafficking, second messengers and for the other aspects of cellular metabolism. The gene coding for this enzyme, OCRL1, has been localised at Xq25-q26.1 and mutations in it are reported to cause Lowe Syndrome. In this article we report two male siblings, from North India, with Lowe syndrome.

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