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

作者：Calhoun Amy R U L^*; Raymond Gerald V

来源：American Journal of Medical Genetics, Part A, 2014, 164(10): 2613-2617.

DOI：10.1002/ajmg.a.36661

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

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.

• 出版日期2014-10