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Case Reports in Genetics
Volume 2015, Article ID 454526, 4 pages
http://dx.doi.org/10.1155/2015/454526
Case Report

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

1Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand
2Adult and Paediatric National Metabolic Service, Auckland City Hospital, Auckland 1142, New Zealand
3Genetic Health Service New Zealand, Auckland City Hospital, Auckland 1142, New Zealand
4Department of Radiology, Auckland City Hospital, Auckland 1142, New Zealand
5Department of Biochemical Genetics, SA Pathology, North Adelaide, SA 5006, Australia
6Department of Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia
7Department of Genome Analysis, Academic Medical Centre, 1105 Amsterdam, Netherlands
8Department of Neurology, Auckland City Hospital, Auckland 1142, New Zealand
9Developmental Paediatric Service, Starship Children’s Health, Auckland 1142, New Zealand
10Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland 1142, New Zealand
11Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand

Received 6 July 2015; Accepted 5 October 2015

Academic Editor: Mohnish Suri

Copyright © 2015 Jessie C. Jacobsen et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in the peroxisome biogenesis factor 7 gene in both individuals. Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1). One mutation, , has only been documented once before in a Japanese family, which is of interest given these two boys are of European descent. The other mutation, , is found in approximately 50% of RCDP1 patients. These are the first cases of RCDP1 that describe the coinheritance of the and mutations and demonstrate the utility of WES in cases with unclear diagnoses.