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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)2613-2617
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number10
DOIs
StatePublished - 2014
Externally publishedYes

Fingerprint

Gene Deletion
X-Linked Genes
Intellectual Disability
Liver Diseases
Exons
Phenotype
Growth
creatine transporter

Keywords

  • ABCD1
  • ABCD1/DXS137E deletion syndrome
  • BCAP31
  • CADDS
  • Distal Xq28 deletion syndrome
  • SLC6A8
  • X-linked creatine transporter deficiency
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

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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 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.",
keywords = "ABCD1, ABCD1/DXS137E deletion syndrome, BCAP31, CADDS, Distal Xq28 deletion syndrome, SLC6A8, X-linked creatine transporter deficiency, X-linked mental retardation",
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