Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies. Issue 7 (8th May 2018)

• Record Type: Journal Article
• Authors: Sajan, Samin A.; Powis, Zöe; Helbig, Katherine L.; Nagakura, Honey; Immken, Ladonna; Tang, Sha; Alcaraz, Wendy A.
• Is Part Of: Clinical case reports. Volume 6:Issue 7(2018)
• Page Start: 1208
• Page End: 1213
• Publication Date: 2018-05-08
• Subjects: developmental anomalies -- diagnostic exome sequencing -- GLI2 -- uniparental disomy; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1575
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified through DES. We therefore recommend routine UPD analysis during DES to identify this genetic aberration. Abstract : Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified through DES. We therefore recommend routine UPD analysis during DES to identify this genetic aberration.