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; Gerald V Raymond

doi:10.1002/ajmg.a.36661

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

Am J Med Genet A. 2014 Oct;164A(10):2613-7. doi: 10.1002/ajmg.a.36661. Epub 2014 Jul 9.

Authors

Amy R U L Calhoun¹, Gerald V Raymond

Affiliation

¹ Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

PMID: 25044748
DOI: 10.1002/ajmg.a.36661

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.

Publication types

Case Reports

MeSH terms

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
Creatine / genetics
Gene Deletion
Humans
Infant
Male
Membrane Proteins / genetics*
Mental Retardation, X-Linked / genetics
Nerve Tissue Proteins / genetics*
Plasma Membrane Neurotransmitter Transport Proteins / deficiency
Plasma Membrane Neurotransmitter Transport Proteins / genetics*
Sequence Deletion / genetics*

Substances

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

Supplementary concepts

Contiguous Abcd1-Dxs1375e Deletion Syndrome
Creatine deficiency, X-linked