Abstract
The contiguousABCD1/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 Xlinked 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.
Original language | English (US) |
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Pages (from-to) | 2613-2617 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 164 |
Issue number | 10 |
DOIs | |
State | Published - Oct 2014 |
Bibliographical note
Publisher Copyright:© 2014 Wiley Periodicals, Inc.
Keywords
- ABCD1
- ABCD1/DXS137E deletion syndrome
- BCAP31
- CADDS
- Distal Xq28 deletion syndrome
- SLC6A8
- X-linked creatine transporter deficiency
- X-linked mental retardation