ABCD1 p.Arg163Leu
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] A Korean boy with atypical X-linked adrenoleukodys... Korean J Pediatr. 2014 Sep;57(9):416-9. doi: 10.3345/kjp.2014.57.9.416. Epub 2014 Sep 30. Jwa HJ, Lee KS, Kim GH, Yoo HW, Lim HH
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
Korean J Pediatr. 2014 Sep;57(9):416-9. doi: 10.3345/kjp.2014.57.9.416. Epub 2014 Sep 30., [PMID:25324868]
Abstract [show]
X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0 ratios. These tests are complemented with genetic analyses. A 7.5-year-old boy was admitted to Department of Pediatrics, Chungnam National University Hospital with progressive weakness of the bilateral lower extremities. Brain magnetic resonance imaging confirmed clinically suspected ALD. A low dose adrenocorticotropic hormone stimulation test revealed parital adrenal insufficiency. His fasting plasma levels of VLCFA showed that his C24:0/C22:0 and C26:0/C22:0 ratios were significantly elevated to 1.609 (normal, 0-1.390) and 0.075 (normal, 0-0.023), respectively. Genomic DNA was extracted from peripheral whole blood samples collected from the patient and his family. All exons of ABCD1 gene were amplified by polymerase chain reaction (PCR) using specific primers. Amplified PCR products were sequenced using the same primer pairs according to the manufacturer's instructions. We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1. His asymptomatic mother carried the same mutation. We have reported an unpublished mutation in the ABCD1 gene in a patient with X-ALD, who showed increased ratio of C24:0/C22:0 and C26:0/C22:0, despite a normal VLCFA concentrations.
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No. Sentence Comment
9 We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1.
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ABCD1 p.Arg163Leu 25324868:9:37
status: NEW42 The ABCD1 gene in the proband revealed a missense mutation (p.Arg163Leu) caused by the nucleotide change 488G>T in exon 1 (Fig. 3A).
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ABCD1 p.Arg163Leu 25324868:42:62
status: NEW45 The c.488G>T (p.Arg163Leu) substitution is a previously unpublished mutation in the ABCD1 gene.
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ABCD1 p.Arg163Leu 25324868:45:16
status: NEW58 This mutation in the ABCD1 gene, c.488G>T (p.Arg163Leu) in exon 1, has been reported by Dr. Steinberg through the internet-accessible mutation database for X-ALD (http://www.x-ald.
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ABCD1 p.Arg163Leu 25324868:58:45
status: NEW81 We have reported a Korean boy with atypical X-ALD, confirmed by a previously unpublished datum from the X-ALD Database, c.488G>T (p.Arg163Leu) in exon 1 of ABCD1.
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ABCD1 p.Arg163Leu 25324868:81:132
status: NEW84 The mutation in the ABCD1 gene is hemizygous c.488G>T (p.Arg163Leu) in the middle of sequence.
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ABCD1 p.Arg163Leu 25324868:84:57
status: NEW