title: 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.affiliation: Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Amy R U L
authors.initials: AR
authors.lastname: Calhoun
authors.forename: Gerald V
authors.initials: GV
authors.lastname: Raymond
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics; D025063:Chromosome Disorders / Q000235:genetics*; D003401:Creatine / Q000172:deficiency / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; C091247:BCAP31 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D003401:Creatine
keywords: ABCD1; ABCD1/DXS137E deletion syndrome; BCAP31; CADDS; SLC6A8; X-linked creatine transporter deficiency; X-linked mental retardation; distal Xq28 deletion syndrome