Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
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ABSTRACT:
SUBMITTER: Sajan SA
PROVIDER: S-EPMC6028413 | biostudies-other | 2018 Jul
REPOSITORIES: biostudies-other
Publications
Diagnostic exome sequencing identifies <i>GLI2</i> haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Sajan Samin A SA Powis Zöe Z Helbig Katherine L KL Nagakura Honey H Immken Ladonna L Tang Sha S Alcaraz Wendy A WA
Clinical case reports 20180508 7
Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of <i>GLI2</i> 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. ...[more]
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