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.

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.

• Authors: Amy R U L Calhoun, Gerald V Raymond
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 10 Pg. 2613-7 (Oct 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 25044748 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• ABCD1 protein, human
• ATP Binding Cassette Transporter, Subfamily D, Member 1
• ATP-Binding Cassette Transporters
• BCAP31 protein, human
• Membrane Proteins
• Nerve Tissue Proteins
• Plasma Membrane Neurotransmitter Transport Proteins
• SLC6A8 protein, human
• Creatine

Topics

• ATP Binding Cassette Transporter, Subfamily D, Member 1
• ATP-Binding Cassette Transporters (genetics)
• Abnormalities, Multiple (genetics)
• Brain Diseases, Metabolic, Inborn (genetics)
• Chromosome Disorders (genetics)
• Creatine (deficiency, genetics)
• Gene Deletion
• Humans
• Infant
• Male
• Membrane Proteins (genetics)
• Mental Retardation, X-Linked (genetics)
• Nerve Tissue Proteins (genetics)
• Plasma Membrane Neurotransmitter Transport Proteins (deficiency, genetics)
• Sequence Deletion (genetics)