whole exome sequencing of one patient with epilepsy and development delay

Published: 31 August 2021| Version 1 | DOI: 10.17632/5d2rrg2rs6.1
Contributor:
Wenjie Chen

Description

clinical testing for patients with epilepsy and development delay. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs) . SNP mutation analysis based WES data revealed the maternal uniparental disomy (1q32.1) unmasked the homozygous variant of CNTN2.

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