ABCMdb

ABCD1 p.Tyr620His

Predicted by SNAP2:	A: D (63%), C: N (53%), D: D (80%), E: D (80%), F: N (66%), G: D (75%), H: D (66%), I: D (53%), K: D (80%), L: D (53%), M: D (59%), N: D (75%), P: D (85%), Q: D (71%), R: D (66%), S: D (71%), T: D (71%), V: D (53%), W: D (63%),
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, R: D, S: D, T: D, V: D, W: D,

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Publications
[hide] A novel mutation in the ABCD1 gene of a Korean boy... Gene. 2012 Apr 25;498(1):131-3. Epub 2012 Feb 1. Park JA, Jun KR, Han SH, Kim GH, Yoo HW, Hur YJ
A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.
Gene. 2012 Apr 25;498(1):131-3. Epub 2012 Feb 1., [PMID:22326269]

Abstract [show]
X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China and Japan, but not in Korea. This case report describes a Korean boy diagnosed with X-ALD. Direct sequencing for the ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). This missense variant was novel and predicted to be possibly damaging by the PolyPhen and SIFT prediction software. Moreover, this is the first report in Korean.

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Sentences [show]
No. Sentence Comment
3 Direct sequencing for the ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). Login to comment
17 This patient had a positive family history and a novel missense point mutation in the ABCD1 gene (Tyr620His). Login to comment
55 DNA sequencing of the complete ABCD1 gene coding region revealed a novel Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). Login to comment
57 The PolyPhen and SIFT programs predicted Tyr620His (c.1858T>C) to be possibly damaging (PSIC score=2.413) and affecting protein function, respectively. Login to comment
64 Our case had a novel Tyr620His (Y620H) missense mutation caused by the cDNA nucleotide transition 1858 T>C. This boy was diagnosed with childhood cALD and showed very rapidly progressing neurodevelopmental regression; it was only 9 months from when he first started showing abnormalities suggesting X-ALD to being in a bed-ridden state. Login to comment
65 Unfortunately his male cousin on the mother's side had not been tested for the ABCD1 gene mutation; however, considering that his mother had the same Tyr620His missense mutation, they were likely to have this same mutation. Login to comment
84 The mutation found in our patient (Tyr620His) was located in exon 8, which contains the ATP-binding domain. Login to comment
92 In conclusion, our case was revealed to have a novel Tyr620His (Y620H) ABCD1 gene missense mutation caused by the cDNA nucleotide transition 1858 T>C. This mutation was located on exon 8, containing the ATP-binding domain. Login to comment
94 Our case showed that the Tyr620His missense mutation caused very rapidly progressing childhood cerebral ALD. Login to comment
54 DNA sequencing of the complete ABCD1 gene coding region revealed a novel Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). Login to comment
56 The PolyPhen and SIFT programs predicted Tyr620His (c.1858T>C) to be possibly damaging (PSIC score=2.413) and affecting protein function, respectively. Login to comment
63 Our case had a novel Tyr620His (Y620H) missense mutation caused by the cDNA nucleotide transition 1858 T>C. This boy was diagnosed with childhood cALD and showed very rapidly progressing neurodevelopmental regression; it was only 9 months from when he first started showing abnormalities suggesting X-ALD to being in a bed-ridden state. Login to comment
83 The mutation found in our patient (Tyr620His) was located in exon 8, which contains the ATP-binding domain. Login to comment
91 In conclusion, our case was revealed to have a novel Tyr620His (Y620H) ABCD1 gene missense mutation caused by the cDNA nucleotide transition 1858 T>C. This mutation was located on exon 8, containing the ATP-binding domain. Login to comment
93 Our case showed that the Tyr620His missense mutation caused very rapidly progressing childhood cerebral ALD. Login to comment