Whole ‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome

ConclusionsThis is the first report of an interstitial deletion encompassingOCRL andSMARCA1 gene in Lowe syndrome. Our results expand the spectrum of mutations of theOCRL gene in Chinese population. Moreover, whole ‐genome sequencing presents a comprehensive and reliable approach for detecting genomic copy number variation in patients or carriers in the family with rare inherited disorders.

Source: Molecular Genetics & Genomic Medicine - August 2, 2019 Category: Genetics & Stem Cells Authors: Bixia Zheng, Qiuxia Chen, Chunli Wang, Wei Zhou, Ying Chen, Guixia Ding, Zhanjun Jia, Aihua Zhang, SongMing Huang Tags: ORIGINAL ARTICLE Source Type: research