
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED 13L haploinsufficiency syndromes
Author(s) -
Mullegama Sureni V.,
Jensik Phillip,
Li Chen,
Dorrani Naghmeh,
Kantarci Sibel,
Blumberg Bruce,
Grody Wayne W.,
Strom Samuel P.
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.904
Subject(s) - haploinsufficiency , medicine , exome sequencing , familial mediterranean fever , pediatrics , genetics , pathology , phenotype , disease , gene , biology
Key Clinical Message Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies. Further, functional studies on variants of uncertain significance are necessary to arrive at an accurate diagnosis for the patient.