A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

E-resources

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Bacino, Carlos; Chao, Yu-Hsin; Seto, Elaine; Lotze, Tim; Xia, Fan; Jones, Richard O; Moser, Ann; Wangler, Michael F

Molecular genetics and metabolism reports, 12/2015, Volume: 5

Report

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 PEX16 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.

Keep searching

Author

Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.

Year	Impact factor		Edition		Category		Classification
Year	JCR	SNIP	JCR	SNIP	JCR	SNIP	JCR	SNIP

Links to authors' personal bibliographies	Links to information on researchers in the SICRIS system

Source: Personal bibliographies and: SICRIS

Upload image

Shelf entry

Adding material to shelf was successful.

Adding material to shelf failed.

It was not necessary to add the material to the shelf.

Permalink

E-mail

Impact factor

Select the library membership card:

DRS, in which the journal is indexed

Citations

Theme