Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 28-32, 2020.
Article
de Zh
| WPRIM
| ID: wpr-781301
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
/
Dépistage génétique
/
Exons
/
Phosphoric monoester hydrolases
/
Génétique
/
Syndrome de Lowe
Type d'étude:
Prognostic_studies
Limites du sujet:
Humans
/
Infant
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2020
Type:
Article