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 language | English (US) |
|---|---|
| Pages (from-to) | 2613-2617 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 164 |
| Issue number | 10 |
| DOIs | |
| State | Published - Jan 1 2014 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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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. / Calhoun, Amy R U L; Raymond, Gerald.
In: American Journal of Medical Genetics, Part A, Vol. 164, No. 10, 01.01.2014, p. 2613-2617.Research output: Contribution to journal › Article
TY - JOUR
T1 - Distal Xq28 microdeletions
T2 - Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
AU - Calhoun, Amy R U L
AU - Raymond, Gerald
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84908255549&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84908255549&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36661
DO - 10.1002/ajmg.a.36661
M3 - Article
VL - 164
SP - 2613
EP - 2617
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 10
ER -