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Case Reports
. 2014 Oct;164A(10):2613-7.
doi: 10.1002/ajmg.a.36661. Epub 2014 Jul 9.

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

Amy R U L Calhoun  1 , Gerald V Raymond
Affiliations
Case Reports

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

Amy R U L Calhoun et al. Am J Med Genet A. 2014 Oct.

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.

Keywords: ABCD1; ABCD1/DXS137E deletion syndrome; BCAP31; CADDS; SLC6A8; X-linked creatine transporter deficiency; X-linked mental retardation; distal Xq28 deletion syndrome.

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