Lowe Syndrome - Case Report with a Novel Mutation in the Oculocerebrorenal Gene

被引：0

作者：

Sethi, Suman ^{[1
]}

Sethi, Nitin ^{[2
]}

Mehta, Sudhir ^{[1
]}

Kaur, Simran ^{[1
]}

Makkar, Vikas ^{[1
]}

Sohal, P. M. ^{[1
]}

机构：

[1] Dayanand Med Coll & Hosp, Dept Nephrol, Ludhiana, Punjab, India

[2] Fortis Hosp, Dept Surg, Ludhiana, Punjab, India

来源：

SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION | 2020年 / 31卷 / 01期

关键词：

OCRL1; GENE;

D O I：

10.4103/1319-2442.279955

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.

引用

页码：285 / 288

页数：4

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