| Title: |
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency |
| Authors: |
Amor, D.J.; Marsh, A.P.L.; Storey, E.; Tankard, R.; Gillies, G.; Delatycki, M.B.; Pope, K.; Bromhead, C.; Leventer, R.J.; Bahlo, M.; Lockhart, P.J. |
| Publisher Information: |
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology |
| Publication Year: |
2016 |
| Description: |
Objective: To determine the genetic cause of slowly progressive cerebellar ataxia, sensorineural deafness, and hypergonadotropic hypogonadism in 5 patients from 3 different families. Methods: The patients comprised 2 sib pairs and 1 sporadic patient. Clinical assessment included history, physical examination, and brain MRI. Linkage analysis was performed separately on the 2 sets of sib pairs using single nucleotide polymorphism microarrays, followed by analysis of the intersection of the regions. Exome sequencing was performed on 1 affected patient with variant filtering and prioritization undertaken using these intersected regions. Results: Using a combination of sequencing technologies, we identified compound heterozygous mutations in HSD17B4 in all 5 affected patients. In all 3 families, peroxisomal D-bifunctional protein (DBP) deficiency was caused by compound heterozygosity for 1 nonsense/deletion mutation and 1 missense mutation. Conclusions: We describe 5 patients with juvenile DBP deficiency from 3 different families, bringing the total number of reported patients to 14, from 8 families. This report broadens and consolidates the phenotype associated with juvenile DBP deficiency. |
| Document Type: |
article in journal/newspaper |
| File Description: |
pdf |
| Language: |
English |
| Relation: |
ispartof: Neurology Genetics issue 6 vol 2; WOS:000445343500005; https://doi.org/10.1212/NXG.0000000000000114; 991005541512807891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135490550007891/13137125950007891; alma:61MUN_INST/bibs/991005541512807891 |
| DOI: |
10.1212/NXG.0000000000000114 |
| Availability: |
https://doi.org/10.1212/NXG.0000000000000114; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Heterozygous-mutations-in-HSD17B4-cause-juvenile/991005541512807891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135490550007891/13137125950007891 |
| Rights: |
© 2016 American Academy of Neurology ; Open |
| Accession Number: |
edsbas.91AEDC51 |
| Database: |
BASE |