Journal article
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
Neurology Genetics, Vol.2(6), e114
2016
Abstract
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.
Details
- Title
- Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
- Authors/Creators
- D.J. Amor (Author/Creator) - Royal Children's HospitalA.P.L. Marsh (Author/Creator) - The University of MelbourneE. Storey (Author/Creator) - Monash UniversityR. Tankard (Author/Creator) - Walter and Eliza Hall Institute of Medical ResearchG. Gillies (Author/Creator) - Royal Children's HospitalM.B. Delatycki (Author/Creator) - Murdoch Children's Research InstituteK. Pope (Author/Creator) - Royal Children's HospitalC. Bromhead (Author/Creator) - Walter and Eliza Hall Institute of Medical ResearchR.J. Leventer (Author/Creator) - Royal Children's HospitalM. Bahlo (Author/Creator) - Walter and Eliza Hall Institute of Medical ResearchP.J. Lockhart (Author/Creator) - Murdoch Children's Research Institute
- Publication Details
- Neurology Genetics, Vol.2(6), e114
- Publisher
- Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
- Identifiers
- 991005541512807891
- Copyright
- © 2016 American Academy of Neurology
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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