罗氏综合征——一例新型眼-脑-肾基因突变病例报告。

Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.

机构信息

Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.

Department of Surgery, Fortis Hospital, Ludhiana, Punjab, India.

出版信息

Saudi J Kidney Dis Transpl. 2020 Jan-Feb;31(1):285-288. doi: 10.4103/1319-2442.279955.

DOI:10.4103/1319-2442.279955

PMID:32129227

Abstract

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.

摘要

眼-脑-肾（OCRL）综合征，也称为 Lowe 综合征（LS），是一种主要影响男性的 X 连锁隐性疾病，其特征是生长和智力发育迟缓、先天性白内障和肾脏 Fanconi 综合征。OCRL1 是 LS 的致病基因，编码肌醇多磷酸-5-磷酸酶。我们报告了一名来自印度北部的男性患儿，患有 LS，OCRL 基因外显子 14 中的错义突变。