Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

Sureni V Mullegama; Phillip Jensik; Chen Li; Naghmeh Dorrani; UCLA Clinical Genomics Center; Sibel Kantarci; Bruce Blumberg; Wayne W Grody; Samuel P Strom

doi:10.1002/ccr3.904

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

Clin Case Rep. 2017 Apr 18;5(6):833-840. doi: 10.1002/ccr3.904. eCollection 2017 Jun.

Authors

Sureni V Mullegama^{1

2}, Phillip Jensik³, Chen Li⁴, Naghmeh Dorrani^{1

2

5

6}; UCLA Clinical Genomics Center; Sibel Kantarci^{1

2}, Bruce Blumberg⁷, Wayne W Grody^{1

2

5

6}, Samuel P Strom^{1

2}

Affiliations

¹ UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
² UCLA Clinical Genomics Center David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
³ Department of Physiology Southern Illinois University School of Medicine Carbondale Illinois.
⁴ Department of Cellular and Genetic Medicine School of Basic Medical Sciences Fudan University Shanghai China.
⁵ Department of Human Genetics David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
⁶ Department of Pediatrics David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
⁷ Kaiser Permanente Oakland California.

Abstract

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.

Keywords: Clinical exome sequencing; DEAF1; MED13L; MED13L haploinsufficiency syndrome; MEFV; familial Mediterranean fever.

Publication types

Case Reports

Grants and funding

R21 NS091724/NS/NINDS NIH HHS/United States