ABCD1 p.Leu154Pro
| Predicted by SNAP2: | A: D (53%), C: N (82%), D: D (75%), E: D (71%), F: N (72%), G: D (63%), H: N (53%), I: N (66%), K: D (75%), M: N (82%), N: D (71%), P: D (80%), Q: D (59%), R: D (75%), S: D (59%), T: D (53%), V: N (61%), W: D (66%), Y: D (53%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Successful cord blood transplantation with reduced... Pediatr Transplant. 2012 Mar;16(2):E63-70. doi: 10.1111/j.1399-3046.2011.01539.x. Epub 2011 Aug 11. Niizuma H, Uematsu M, Sakamoto O, Uchiyama T, Horino S, Onuma M, Matsuhashi T, Rikiishi T, Sasahara Y, Minegishi M, Tsuchiya S
Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.
Pediatr Transplant. 2012 Mar;16(2):E63-70. doi: 10.1111/j.1399-3046.2011.01539.x. Epub 2011 Aug 11., [PMID:21834803]
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Childhood cerebral ALD is a rapidly progressive and neurodegenerative disorder for which HSCT is the curative therapy if carried out at early stages. We successfully treated two patients of childhood cerebral ALD by CBT with RIC. The proband was a seven-yr-old boy whose brain MRI severity score (Loes score) was 14.5. Unrelated CBT was performed in five wk. To minimize conditioning regimen-related neurotoxicity, the combination of fludarabine (125 mg/m(2)), melphalan (140 mg/m(2)), and 4 Gy of brain-sparing TBI was used. The second patient was a six-yr-old brother of the proband. Four wk after the detection of a single small lesion (Loes score 1), he received unrelated CBT with the same RIC as the proband. In both patients, the engraftment was fast and stable, and severe complications were not observed. Furthermore, gadolinium-enhanced inflammation on brain MRI rapidly disappeared after CBT. Now, 20 and 13 months have passed after CBT, respectively, and both patients are neurologically stable. The RIC we used was sufficient for stable engraftment of cord blood and also tolerable even to the patient with advanced ALD. RIC-CBT should be considered for the patients with cerebral ALD at advanced stages, as well as those at early stages.
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No. Sentence Comment
39 Sequence analysis of ABCD1 gene on genomic DNA extracted from the peripheral blood mononuclear cells revealed a missense point mutation of c.461T>C (p.L154P).
X
ABCD1 p.Leu154Pro 21834803:39:151
status: NEW