Dataset for a case report of a homozygous PEX16 F332del mutation

This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient׳s peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided.


a b s t r a c t
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient's peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided.
& 2016 Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Subject area
Genomics More specific subject area

Peroxisomal Disorders
Type of data Blood samples and a skin biopsy were obtained from the patient. DNA, plasma and cultured fibroblasts were analyzed in the context of the patient's diagnostic course. LC-MS/MS, Enzyme activity using radioactive substrates, colorimetric assays, next-generation sequencing.

Data format
Analyzed datasets, Excel, Tif files.

Experimental features
Plasma samples and cultured fibroblast from a skin biopsy were used for peroxisomal biochemical analysis. Genomic DNA was utilized for whole-exome sequencing.

Data source location
Houston Texas

Data accessibility
Date is included with this article

Value of the data
A profile of a patient with an atypical peroxisomal biogenesis disorder which can be compared with other patient's with these phenotypes.
Clinical review of diagnostic considerations for atypical peroxisomal biogenesis disorders. Comprehensive set of functional consequences of F332del allele of PEX16.

Data
See Table 1. 1. Plasma VLCFAplasma was collected at ages 10 years, 11 years and 22 years for VLCFA analysis. Values shown in ug/ml. C24/C22 and C26/C22 ratios shown. Z-scores of the patient's sample measurment as compared to a set of normal controls shown. 2. Fibroblast VLCFApatient fibroblasts were cultured and analyzed for VLCFA analysis. Values shown are in mg/mg protein. Z-scores of the patient's sample measurment as compared to a set of normal controls shown. 3. Catalase Distributioncultured cells were analyzed for Catalase Distribution (expressed in % soluble). A Z-score of the patient's sample is shown. 4. Plasmalogen synthesis assay from radiolabel enzyme assay is shown. 5. Plasma pipecolic acid (expressed in mmole/L). 6. Lyso-PC -LC MS/MS of lysophospholipids for the patient's blood sample at 22 years. 7. 14C oxidation assays for Phytanic and Pristanic acid (in % of the mean of controls) shown.

Ethics statement
Informed consent for the research and for publication was obtained prior to participation for the subject who was recruited under an Institutional Review Board approved protocol at Baylor College of Medicine.

Peroxisomal biochemical studies
Plasma samples and cultured fibroblast from a skin biopsy were used for peroxisomal biochemical analysis.
-Plasma pipecolic acid was measured by electron capture negative ion mass fragmentography [1].
-Very-long-chain fatty acid levels and total lipid fatty acid profile were measured as described [2,3].
-Produced sequence reads were aligned to the GRCh37 (hg19) human genome reference assembly using the HGSC Mercury analysis pipeline (http://www.tinyurl.com/HGSC-Mercury/). Variants were determined and called using the Atlas2 [12] suite to produce a variant call file (VCF [13]). -High-quality variants were annotated using an in-house developed suite of annotation tools [14].