Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
Joint Authors
Jacobsen, Jessie C.
Glamuzina, Emma
Swan, Brendan
Handisides, Shona
Wilson, Callum
Fietz, Michael
van Dijk, Tessa
Appelhof, Bart
Hill, Rosamund
Marks, Rosemary
Robertson, Stephen P.
Snell, Russell G.
Lehnert, Klaus
Taylor, Juliet
Love, Donald R.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-10-26
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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, p.Arg232∗, 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, p.Leu292∗, is found in approximately 50% of RCDP1 patients.
These are the first cases of RCDP1 that describe the coinheritance of the p.Arg232∗ and p.Leu292∗ mutations and demonstrate the utility of WES in cases with unclear diagnoses.
American Psychological Association (APA)
Jacobsen, Jessie C.& Glamuzina, Emma& Taylor, Juliet& Swan, Brendan& Handisides, Shona& Wilson, Callum…[et al.]. 2015. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058510
Modern Language Association (MLA)
Jacobsen, Jessie C.…[et al.]. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Reports in Genetics No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1058510
American Medical Association (AMA)
Jacobsen, Jessie C.& Glamuzina, Emma& Taylor, Juliet& Swan, Brendan& Handisides, Shona& Wilson, Callum…[et al.]. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058510
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058510