Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene
10.3760/cma.j.issn.1003-9406.2020.01.008
- VernacularTitle: 一例OCRL基因外显子重复变异所致的眼脑肾综合征患儿的临床及遗传学分析
- Author:
Zhouxian BAI
1
;
Lina LIU
;
Shuang HU
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China
- Publication Type:Journal Article
- Keywords:
Lowe syndrome;
OCRL gene;
Exonic duplication;
X-linked recessive inheritance
- From:
Chinese Journal of Medical Genetics
2020;37(1):28-32
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.
Methods:Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests.
Results:The infant’s phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant.
Conclusion:The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.
