Journal article
Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
American journal of medical genetics. Part A, Vol.164A(10), pp.2613-2617
10/2014
DOI: 10.1002/ajmg.a.36661
PMID: 25044748
Abstract
The contiguous ABCD1/DXS1375E (BCAP31) deletion syndrome (CADDS) is a rare X-linked contiguous gene deletion syndrome with a severe clinical phenotype that includes marked delays, significant growth failure, liver dysfunction, and early death. The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, multi-exon deletions of the creatine transporter are rare. We report the fifth case of CADDS, who also has a deletion of the X-linked creatine transporter. We also review reported cases of deletions in this region in order to clarify the clinical spectrum of contiguous microdeletions in this region.
Details
- Title: Subtitle
- Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
- Creators
- Amy R.U.L Calhoun - Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minnesota, MinneapolisGerald V Raymond - Department of Neurology, University of Minnesota, Minnesota, Minneapolis
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.164A(10), pp.2613-2617
- Publisher
- Blackwell Publishing Ltd
- DOI
- 10.1002/ajmg.a.36661
- PMID
- 25044748
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 5
- Language
- English
- Date published
- 10/2014
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093478602771
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