A Homozygous Mutation in Identified by Whole-exome Sequencing Ending a Diagnostic Odyssey

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2015 Dec 9

PMID 26644994

Citations 10

Authors

Carlos Bacino

Yu-Hsin Chao

Elaine Seto

Tim Lotze

Fan Xia

Richard O Jones

Ann Moser

Michael F Wangler

Affiliations

Soon will be listed here.

Abstract

We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient's peroxisomal biochemical abnormalities were subtle, such that plasma very-long-chain fatty acids initially failed to provide a diagnosis. This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.

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