Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Samin A Sajan; Zöe Powis; Katherine L Helbig; Honey Nagakura; Ladonna Immken; Sha Tang; Wendy A Alcaraz

doi:10.1002/ccr3.1575

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clin Case Rep. 2018 May 8;6(7):1208-1213. doi: 10.1002/ccr3.1575. eCollection 2018 Jul.

Authors

Samin A Sajan¹, Zöe Powis¹, Katherine L Helbig^{1

2}, Honey Nagakura³, Ladonna Immken³, Sha Tang¹, Wendy A Alcaraz¹

Affiliations

¹ Department of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.
² Present address: Children's Hospital of Philadelphia Philadelphia PA USA.
³ Specially for Children Genetics Austin TX USA.

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.

Keywords: GLI2; developmental anomalies; diagnostic exome sequencing; uniparental disomy.

Publication types

Case Reports