Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
Mol Genet Metab Rep
; 9: 75-78, 2016 Dec.
Article
in En
| MEDLINE
| ID: mdl-27872819
ABSTRACT
Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Diagnostic_studies
Language:
En
Journal:
Mol Genet Metab Rep
Year:
2016
Document type:
Article
Affiliation country:
Estados Unidos